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Emergence of Lineage E.4 and Structural Plasticity of A28L Protein in Mpox Virus:Characterization of LCR7 Length Polymorphisms Across Lineages—Shenzhen City,Guangdong Province,China,2023–2025 认领 引用
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作者 Bo Peng Ziquan Lyu +7 位作者 Wenxiao Gong Xiaomin Zhang Shiting Chen Wenjuan Ma Xiaolu Shi Jia Wan Jing Qu Xiaoping Dong 《China CDC weekly》 SCIE CSCD 2026年第27期847-851,共5页
Introduction:A28L,a virion membrane protein involved in mpox virus(MPXV)attachment and fusion,is a major target of neutralizing antibodies and a hotspot for genetic variation.This study investigated variations in its ... Introduction:A28L,a virion membrane protein involved in mpox virus(MPXV)attachment and fusion,is a major target of neutralizing antibodies and a hotspot for genetic variation.This study investigated variations in its low-complexity region(LCR7)among MPXV strains circulating in Shenzhen,China.Methods:A total of 6,834 publicly available MPXV clade IIb genomes from the Global Initiative on Sharing All Influenza Data(GISAID)were analyzed,and whole-genome sequencing was performed on 260 clinical isolates collected in Shenzhen during 2023–2025.LCR7 polymorphisms in OPG153/A28L and associated amino acid substitutions were characterized.Results:Global genomic analysis identified a conserved four-residue deletion(D382–D385)in LCR7 that was prevalent in lineage A viruses.In contrast,the dominant B.1 lineage and its derivatives,including all Shenzhen isolates,exhibited heterogeneous truncations,most commonly a single D385 deletion.Among locally circulating E.4 viruses,complex deletion patterns(e.g.,D383–D385 and D384–D385)and a characteristic amino acid substitution,OPG153_E293Q,were identified,the latter representing a lineage-defining mutation.Conclusion:MPXV evolution in Shenzhen was characterized by LCR7 structural plasticity and the accumulation of lineage-specific amino acid substitutions,supporting the genomic accordion model of viral adaptation.Continued surveillance of these genomic features is essential for monitoring local transmission and informing public health interventions. 展开更多
关键词 clinical isolates collected lineage E virion membrane protein mpox virus mpxv attachment LCR length polymorphisms MPXV neutralizing antibodies structural plasticity
Substantia nigra-related gene polymorphisms associated with acute antipsychotic-induced movement disorders 认领 引用
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作者 Kenji Hashimoto 《Military Medical Research》 SCIE CAS CSCD 2026年第2期338-339,共2页
Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),a... Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),and serve as evidence-based augmenters in treatment-resistant depression.Nonetheless,acute antipsychotic-induced movement disorders(AIMDs)[extrapyramidal symptoms(EPS)]are common and clinically costly,impairing quality of life,adherence,and outcomes.The acute spectrum is dominated by dystonia(sustained,often painful contractions). 展开更多
关键词 Antipsychotic Movement disorder Polymorphism Substantia nigra
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Prognostic significance of germline ARID5B and LEPR polymorphisms in intrahepatic and perihilar cholangiocarcinoma after curative resection 认领 引用
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作者 Guanwu Wang Carlos Otto +11 位作者 Dong Liu Tarick M Al-Masri Smiths S Lueong Jens Siveke Tom Luedde Daniel Heise Florian WR Vondran Franziska Alexandra Meister Georg Lurje Ulf Neumann Lara Heij Jan Bednarsch 《World Journal of Gastrointestinal Oncology》 SCIE 2026年第7期213-230,共18页
BACKGROUND Cholangiocarcinoma(CCA)is a biologically heterogeneous and aggressive biliary malignancy associated with poor survival outcomes despite surgical resection.Germline genetic variants,including single-nucleoti... BACKGROUND Cholangiocarcinoma(CCA)is a biologically heterogeneous and aggressive biliary malignancy associated with poor survival outcomes despite surgical resection.Germline genetic variants,including single-nucleotide polymorphisms(SNPs),may modulate tumor behavior and inform postoperative risk stratification.AIM To evaluate the prognostic relevance of selected tumor-related SNPs in patients with intrahepatic CCA(iCCA)and perihilar CCA(pCCA).METHODS In this single-centre retrospective cohort study,we genotyped eight SNPs in cancer-associated genes(ARID5B,LEPR,TERT,SH2B3,MMEL1,PROM1,HDAC7,RUNX3)in 229 patients(112 iCCA,117 pCCA)who underwent curative-intent resection between 2009 and 2020.RESULTS Associations between SNPs and recurrence-free survival(RFS),cancer-specific survival(CSS),and overall survival(OS)were assessed using Kaplan-Meier analysis,univariate,and multivariate Cox regression models.The rs10740055 AA genotype in ARID5B was associated with significantly shorter RFS[hazard ratio(HR)=1.87,P=0.017],CSS(HR=1.78,P=0.033)and OS(HR=1.79,P=0.021)in iCCA as well as shorter RFS(HR=1.84,P=0.031),CSS(HR=2.18,P=0.005)and OS(HR=1.84,P=0.001)univariate analyses.However,only in iCCA did it retain significance in multivariate analysis alongside other important clinicopathological variables(RFS:HR=2.41,P=0.005;CSS:HR=2.27,P=0.020 and OS:HR=4.10,P=0.001).Further,the LEPR rs1137101 GG genotype was associated with significantly shorter RFS(HR=1.91,P=0.010).Germline variants in ARID5B and LEPR were associated with poorer prognosis following resection for CCA,with rs10740055 in ARID5B serving as an independent predictor of survival particularly in iCCA.CONCLUSION These findings support the potential utility of incorporating host genetic markers into postoperative prognostic models for CCA.Prospective validation and mechanistic studies are warranted. 展开更多
关键词 Cholangiocarcinoma Single-nucleotide polymorphisms ARID5B LEPR Prognostic biomarker
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Vitamin D,vitamin D receptor gene polymorphisms,and inflammatory bowel disease outcomes:From molecular mechanisms to clinical application 认领 引用
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作者 Beatriz Gabriela Costa Ryan Nunes Yoshio Yoshihara +7 位作者 Amanda Luísa Spiller Natalia Salvador Castelhano Andrey Santos Júlio Pinheiro Baima Marcello Imbrizi Maiara Brusco De Freitas Daniéla Oliveira Magro Ligia Yukie Sassaki 《World Journal of Gastroenterology》 SCIE CAS 2026年第15期9-23,共15页
Inflammatory bowel diseases(IBD),including Crohn’s disease and ulcerative colitis,arise from intricate interactions among genetic,environmental,microbial,and immune factors.Beyond its classical role in calcium and bo... Inflammatory bowel diseases(IBD),including Crohn’s disease and ulcerative colitis,arise from intricate interactions among genetic,environmental,microbial,and immune factors.Beyond its classical role in calcium and bone metabolism,vitamin D has emerged as a key regulator of the intestinal barrier integrity and immune homeostasis.Vitamin D deficiency is highly prevalent in these disorders,mainly because of malabsorption,dietary restrictions,chronic inflammation,and impaired metabolic activation.Genetic variants of the vitamin D receptor,such as ApaI,TaqI,BsmI,and FokI polymorphisms,may alter receptor function and downstream signaling,influencing disease susceptibility and progression.These polymorphisms have been linked to impaired epithelial barrier function,dysregulated nucleotide-binding oligomerization domain-containing protein 2 signaling,and exaggerated immune activation,central to IBD pathogenesis.Despite growing evidence,clinical assessment and correction of vitamin D deficiency in IBD remain inconsistent,and the influence of vitamin D receptor polymorphisms on therapeutic responses has not been sufficiently characterized.Understanding the interplay between vitamin D status and genetic background could support individualized management strategies.This review underscores the potential of vitamin D supplementation as an adjunctive approach,particularly in patients receiving immunosuppressive or biologic therapies,and emphasizes the need for personalized monitoring to optimize outcomes in IBD. 展开更多
关键词 Vitamin D Vitamin D receptor Genetic polymorphisms Crohn’s disease Ulcerative colitis Inflammatory bowel disease
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Genetic polymorphism of IFI16 and AIM2 among Pakistani hepatitis C virus-induced fibrosis patients 认领 引用
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作者 Iqra Arshad Mashaim Majid +2 位作者 Bisma Rauff Ali Amar Mahmood S Choudhery 《World Journal of Hepatology》 2026年第5期259-272,共14页
BACKGROUND Chronic hepatitis C(CHC)infection remains a significant global health burden often progressing to hepatic fibrosis and cirrhosis,which may ultimately result in hepatocellular carcinoma.Liver fibrosis develo... BACKGROUND Chronic hepatitis C(CHC)infection remains a significant global health burden often progressing to hepatic fibrosis and cirrhosis,which may ultimately result in hepatocellular carcinoma.Liver fibrosis development is governed by complex host-pathogen interaction,including genetic susceptibility and immune dysregulation.IFI16 and AIM2 inflammasomes serve as critical modulators of inflammation and pathogen pathways.AIM To determine the association of variants IFI16(rs1057028)and AIM2(rs2814770)with hepatic fibrosis progression in Pakistani CHC patients.METHODS This study recruited 378 CHC patients from Lahore General Hospital(tertiary care hospital).Study participants were selected based on hepatitis C virus(HCV)-RNA positivity and transient elastography confirmed hepatic fibrosis.A total of 378 CHC patients for IFI16 genetic variant and 140 CHC patients for AIM2 variant were genotyped using amplification refractory mutation system assays.χ2test,ttest,Mann-Whitney U test,combined genotype effect,and logistic regression analysis was performed determine association between target single nucleotide polymorphisms and progression of HCV-related fibrosis and cirrhosis.RESULTS Results of our study showed that only AIM2 rs2841770 variant genotype TT shows significant association with a higher risk of advanced stage of liver fibrosis(OR=4.83,P=0.05).Combined genotype analysis had shown that CHC patients having A allele of rs1057028 and T allele of rs2814770 are significantly associated with increased risk of hepatic fibrosis(OR=2.6,95%CI:1.16-5.86,P=0.022).Our findings also revealed a significant trend of increasing frequency of liver fibrosis with an increased number of risk alleles of IFI16 rs1057028 and AIM2 rs2814770.In univariate regression analysis,body mass index and alanine aminotransferase levels significantly associated with increased risk of liver fibrosis.CONCLUSION This study suggests that AIM2 rs2814770 and its combined effect with IFI16 rs1057028 may be increase susceptibility to hepatic fibrosis in CHC patients,highlighting immunogenetic modulation,warranting further research for predictive biomarkers. 展开更多
关键词 Chronic hepatitis C IFI16 AIM2 Rs2814770 Rs1057028 Genetic polymorphism Prognostic biomarker Liver fibrosis Cirrhosis Hepatitis C virus
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Systematic Evaluation and Application of Single-Nucleotide Polymorphism-Based Genotyping Methods in Varicella-Zoster Virus Molecular Epidemiology Surveillance—China,2017–2026 认领 引用
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作者 Jinyuan Guo Zhen Zhu +17 位作者 Naiying Mao Huiling Wang Junrui Chen Hai Li Lei Cao Suting Wang Lixia Fan Huan Zhang Libo Wang Wensi Wang Xiangpeng Chen Fangcai Li Jia Huang Hongxiong Guo Liqun Li Hui Zhang Daxing Feng Yan Zhang 《China CDC weekly》 SCIE CSCD 2026年第26期827-833,I0002,共7页
Introduction:In China,no standardized singlenucleotide polymorphism(SNP)scheme exists for varicella-zoster virus(VZV)genotyping.The 5-SNP scheme with two amplicon gene fragments lacks systematic validation.This study ... Introduction:In China,no standardized singlenucleotide polymorphism(SNP)scheme exists for varicella-zoster virus(VZV)genotyping.The 5-SNP scheme with two amplicon gene fragments lacks systematic validation.This study aimed to evaluate the accuracy and applicability of this genotyping method.Methods:A total of 280 complete genomes were genotyped using 5 SNPs extracted from ORF22(four SNPs)and ORF38(one SNP)fragments.The results were compared with those of the phylogenetic clustering method as a reference.Concordance with reference was used to estimate the accuracy of the SNP scheme.The evaluated SNP scheme was applied to a national VZV surveillance screen containing 549 clinical samples from 17 Chinese provincial-level administrative divisions(2017–2026).Results:A 97.9%concordance was observed between the 5-SNP scheme and phylogenetic clustering methods.The 2.1%discordance was mostly attributed to putative recombination and early circulation of strains from patients with herpes zoster.During the national VZV surveillance screening,434 samples were amplified,sequenced,and genotyped using a 5-SNP scheme.Of the genotyped samples,90.3%and 8.8%were identified as clades 2 and 5,respectively,using four ORF22 SNPs,and the remaining 0.9%as clade 4,using ORF38 SNP.All samples showed 100%intragenotypic SNP profile consistency.Conclusion:The unified 5-SNP scheme is accurate and practical for VZV surveillance in China;however,periodic evaluation is required. 展开更多
关键词 complete genomes snps molecular epidemiology singlenucleotide polymorphism snp scheme varicella zoster virus amplicon gene fragments genotyping phylogenetic clustering method
STK11 rs12977689 C>A gene polymorphism as a risk factor for coronary artery disease in type 2 diabetes patients 认领 引用
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作者 Made Edwin Sridana Wira Gotera +1 位作者 Bagus AriPradnyana Dwi Sutanagera Made Ratna Saraswati 《Journal of Biomedical Research》 CAS CSCD 2026年第3期332-336,共5页
Dear Editor,Macrovascular and microvascular diseases are the most frequent complications of type 2 diabetes mellitus(T2DM),with coronary artery disease(CAD)being particularly noteworthy[1].Both environmental factors,s... Dear Editor,Macrovascular and microvascular diseases are the most frequent complications of type 2 diabetes mellitus(T2DM),with coronary artery disease(CAD)being particularly noteworthy[1].Both environmental factors,such as dietary habits and lifestyle,and genetic factors contribute to the risk of CAD[2].Notably,single-nucleotide polymorphisms(SNPs)in the serinehreonine kinase 11(STK11)gene have been linked to the development of CAD in patients with T2DM through various mechanisms involving the adiponectin pathway.The activation of AMPactivated protein kinase(AMPK),which depends on STK11,can suppress IKK-NF-κB signaling,thereby reducing the production of proinflammatory cytokines and adhesion molecules,as well as interleukin-18-mediated endothelial cell death[3–4]. 展开更多
关键词 coronary artery disease adiponectin pathway coronary artery disease cad being single nucleotide polymorphisms microvascular diseases AMPK type diabetes
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Vitamin D,vitamin D receptor Fokl polymorphism,and diabetic retinopathy:A case-control study in Kunming,China 认领 引用
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作者 Ze-Hui Liu Zhen-Qin Ran +4 位作者 Rong Yang Li-Xin Chen Zi-Zhou Wang Rui Han Yi-Yu Li 《World Journal of Diabetes》 SCIE 2026年第5期120-129,共10页
BACKGROUND Diabetic retinopathy(DR)is a prevalent and vision-threatening microvascular complication of type 2 diabetes mellitus(T2DM).Although traditional risk factors for DR are well established,the roles of vitamin ... BACKGROUND Diabetic retinopathy(DR)is a prevalent and vision-threatening microvascular complication of type 2 diabetes mellitus(T2DM).Although traditional risk factors for DR are well established,the roles of vitamin D(VD)and genetic variations,particularly the VD receptor(VDR)FokI polymorphism(rs2228570),remain not fully elucidated in the pathogenesis of DR and are under active investigation.VD exerts anti-inflammatory,anti-oxidative,and anti-angiogenic effects that are crucial for retinal microvascular homeostasis.We hypothesized that serum VD levels and the VDR FokI polymorphism are associated with susceptibility to DR.AIM To investigate associations of serum VD levels and the VDR FokI polymorphism with the risk of DR in T2DM patients in Kunming,China.METHODS This case-control study was conducted at the First Affiliated Hospital of Kunming Medical University.Participants were recruited and categorized into three groups:(1)115 patients with DR;(2)130 T2DM patients without retinopathy;and(3)58 healthy controls.Serum 25-hydroxyvitamin D levels were measured by chemiluminescence immunoassay.VDR FokI(rs2228570)genotyping was performed using Sanger sequencing.RESULTS The prevalence of VD deficiency(VDD)was significantly higher in the DR group(54.78%)compared with the T2DM(31.54%)and control groups(20.69%).VDD was significantly associated with an increased risk of DR relative to T2DM patients and healthy controls[odds ratio(OR)=3.09,95%CI:1.90-5.01,P<0.001].Genetic analysis revealed that both the FokI ff genotype(OR=2.36;95%CI:1.27-4.39;P=0.007)and f allele(OR=1.67;95%CI:1.18-2.36;P=0.004)were substantially more prevalent in DR patients than in non-retinopathy T2DM patients and controls,suggesting that these genetic variants are associated with the development of DR.CONCLUSION VDD and the VDR FokI ff genotype are independent risk factors for DR in T2DM patients in Kunming,China.Their combined assessment may aid in DR risk stratification and early intervention. 展开更多
关键词 Diabetic retinopathy Vitamin D Vitamin D receptor FokI polymorphism Sanger sequencing Genetic risk factors
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Single-nucleotide polymorphisms and copy number variations drive adaptive evolution to freezing stress in a subtropical evergreen broadleaved tree:Hexaploid wild Camellia oleifera 认领 引用 被引量：3
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作者 Haoxing Xie Kaifeng Xing +3 位作者 Jun Zhou Yao Zhao Jian Zhang Jun Rong 《Plant Diversity》 SCIE CAS CSCD 2025年第2期214-228,共15页
Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wil... Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower Ne than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress. 展开更多
关键词 Adaptive evolution Camellia oleifera Copy number variations Freezing stress Polyploid Single-nucleotide polymorphisms
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Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population 认领 引用 被引量：1
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作者 Cai-Yun Zhang Yan-Lin Chen +6 位作者 Fang Hou Yan-Zhi Li Wan-Xin Wang Lan Guo Cai-Xia Zhang Li Li Ci-Yong Lu 《World Journal of Psychiatry》 SCIE 2025年第10期98-108,共11页
BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as ... BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD. 展开更多
关键词 Autism spectrum disorder Folate metabolism Gene polymorphism Susceptibility Severity
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Correlation of APOE,SLCO1B1 and LPA KIV-2 gene polymorphisms with coronary heart disease in the Teochew population 认领 引用 被引量：2
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作者 Jia-Xin Xu Ye Wu +3 位作者 Lin Zhang Yong-Hao Wu Chun-Lai Li Fen Lin 《World Journal of Cardiology》 2025年第9期43-53,共11页
BACKGROUND Coronary heart disease(CHD)is a prominent cause of mortality and disability worldwide.Like most complex diseases,the risk of CHD in individuals is regulated by the interaction between genetic factors and li... BACKGROUND Coronary heart disease(CHD)is a prominent cause of mortality and disability worldwide.Like most complex diseases,the risk of CHD in individuals is regulated by the interaction between genetic factors and lifestyle.APOE and SLCO1B1 genetic polymorphisms and LPA KIV-2 copy number variation may influence the development and progression of CHD.Clarifying gene polymor-phisms can guide clinical precision and prevention,thereby improving treatment outcomes.AIM To investigate the influence of APOE and SLCO1B1 gene polymorphisms,as well as LPA KIV-2 copy number variation on CHD in the Teochew population.METHODS A total of 324 patients with CHD and 143 control participants were involved in this study.Single nucleotide polymorphisms rs429358 and rs7412 in the APOE gene,and rs2306283 and rs4149056 in the SLCO1B1 gene were analyzed via high-resolution melting curve analysis.Additionally,PCR was performed to detect KIV-2 copy number variations.Clinical risk factors and potential effects on CHD patients were subsequently assessed.RESULTS In the CHD group,the frequencies of APOE alleleε2,ε3,ε4 were 8.02%,82.97%,and 9.10%,respectively.Compared to the control groups(13.29%,79.37%,and 7.34%,respectively),theε2 allele frequency showed a significant difference(8.02%vs 13.29%,P=0.012).SLCO1B1 allele frequencies in the CHD group were not significantly different from those in the control group(*1a:26.69%vs 25.52%,*1b:61.17%vs 65.38%,*5:0.15%vs 0.35%,*15:11.83%vs 8.74%).The number of copies of the KIV-2 gene was significantly lower in the CHD group when compared to controls(23.35±8.78 vs 27.21±9.48;P<0.01).Logistic regression analysis revealed that sex,age,hypertension,diabetes,smoking,theε2 allele and KIV-2 copy number were factors influencing the presence of CHD.CONCLUSION In the Teochew population,the APOEε2 allele and a higher KIV-2 copy number were associated with a reduced risk of CHD.In contrast,the APOEε4 allele and SLCO1B1 gene were not associated with CHD. 展开更多
关键词 Gene polymorphisms Coronary heart disease Teochew population APOE SLCO1B1 KIV-2
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Activin A receptor type 1C single nucleotide polymorphisms associated with esophageal squamous cell carcinoma risk in Chinese population 认领 引用 被引量：2
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作者 Si-Yun Lin Hou Huang +13 位作者 Jin-Jie Yu Feng Su Tian Jiang Shao-Yuan Zhang Lu Lv Tao Long Hui-Wen Pan Jun-Qing Qi Qiang Zhou Wei-Feng Tang Guo-Wen Ding Li-Ming Wang Li-Jie Tan Jun Yin 《World Journal of Gastrointestinal Oncology》 SCIE 2025年第1期39-51,共13页
BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis th... BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population. 展开更多
关键词 Activin A receptor type 1C Single nucleotide polymorphisms Esophageal squamous cell carcinoma Genetic susceptibility Hospital-based cohort study
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Evaluating the scope of human leukocyte antigen polymorphisms influencing hepatitis B virus-related liver cancer and cirrhosis through multi-clustering analysis 认领 引用
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作者 Shi Li Yue Xi +3 位作者 Xue-Ying Dong Wen-Bin Yuan Jing-Feng Tang Ce-Fan Zhou 《World Journal of Gastroenterology》 SCIE CAS 2025年第7期156-159,共4页
Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on sp... Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers. 展开更多
关键词 Hepatitis B virus Gene polymorphisms Multi-clustering analysis Genetic markers Personalized medicine Clinical implications
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Deciphering performance heterogeneity and polymorphic transformation in siliceous ramming materials:a mechanistic exploration 认领 引用
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作者 Ben-Jun Cheng Wei-Bin Xu +3 位作者 Zhong-Fei Liu Feng Wu Guo-Qi Liu Xiao-Cheng Liang 《Journal of Iron and Steel Research International》 SCIE EI CSCD 2026年第3期45-59,共15页
As a distinctive unshaped refractory material used in steelmaking induction furnace linings,significant variations in raw material performance,particularly erosion resistance,have been observed across silica sources f... As a distinctive unshaped refractory material used in steelmaking induction furnace linings,significant variations in raw material performance,particularly erosion resistance,have been observed across silica sources from different regions.To clarify the causes of performance discrepancies and reveal the erosion resistance mechanisms,erosion resistance experiments were conducted on three quartzite raw materials from distinct regions.Furthermore,the enhancement effects of mineralizers on the raw material with the poorest performance were investigated,and the erosion resistance mechanisms of representative raw materials and mineralization effects in silica ramming materials were proposed.The results demonstrated that the presence of dolomite and iron oxide in raw materials is critical for improving the erosion resistance of silica ramming materials.However,the material with 1 wt.%dolomite as a standalone mineralizer exhibited optimal erosion resistance compared to iron oxide composite mineralizers.This improvement is attributed to the formation of uniformly distributed tridymite and an appropriate liquid phase,which mitigates volume expansion effects caused by quartz phase transformation,thereby minimizing aggregate cracking.Additionally,magnesium derived from dolomite plays a specialized role in the operational environment,with the synergistic effects of these two factors collectively enhancing the material’s erosion resistance. 展开更多
关键词 Silica Unshaped refractory Mineralization mechanism Quartz polymorphic transformation Erosion resistance
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Tuning up of chromism,luminescence in cadmium-viologen complexes through polymorphism strategy:Inkless erasable printing application 认领 引用 被引量：2
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作者 Yanting Yang Guorong Wang +5 位作者 Kangjing Li Wen Yang Jing Zhang Jian Zhang Shili Li Xianming Zhang 《Chinese Chemical Letters》 SCIE CAS CSCD 2025年第1期322-325,共4页
In our work,polymorphism strategy has been successfully applied to tune up chromism and luminescence properties of viologen-based materials.Two polymorphs of viologen-based complexes ofα-CdBr2(PHSQ)2(H2O)_(2... In our work,polymorphism strategy has been successfully applied to tune up chromism and luminescence properties of viologen-based materials.Two polymorphs of viologen-based complexes ofα-CdBr2(PHSQ)2(H2O)2(1)andβ-CdBr2(PHSQ)2(H2O)2(2)(PHSQ=N-(4-sulfophenyl)-4,4-bipyridinium)were synthesized by changing the solvent.They can both respond to UV light and electricity in the manner of chromism visible to the naked eye and the coloration states have good reversibility,through which an inkless erasable printing model has been established.But the coloration contrast of 1 is higher compared to 2.Meanwhile,they both exhibit photoluminescence properties and the intensity of 1 is twice that of 2,which is accompanied by photoquenching upon continuous UV light irradiation.The only divergence of disordered/ordered O atoms in the two crystalline compounds leads to significantly different chromic and luminescent properties.Further explorations simultaneously demonstrate that the different chromic performance between 1 and 2 should attribute to the alteration of stimulus-induced(light/electricity)electron transfer channels caused by the ordered/disordered O atoms in the complexes,which is achieved through C-H···O and O-H···O interactions to change crystal arrangement and structural rigidity,thus affect luminescent properties. 展开更多
关键词 Polymorphs Photochromism Electrochromism Photoluminescence
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Unlocking the potential of metal halide perovskites for high-performance thermoelectric energy conversion through stable polymorphic phase mixing and electronic heterostructure 认领 引用
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作者 Mohammad-Reza Ahmadian-Yazdi Lifu Yan +2 位作者 Shangchao Lin Ge Fu Mojtaba Abdi-Jalebi 《Journal of Energy Chemistry》 SCIE EI CAS CSCD 2026年第6期810-823,I0019,共14页
Metal halide perovskites(MHPs)have been accelerating next generation high performance solar cells due to their high charge carrier transport and optoelectronic properties.However,their thermoelectric properties fall b... Metal halide perovskites(MHPs)have been accelerating next generation high performance solar cells due to their high charge carrier transport and optoelectronic properties.However,their thermoelectric properties fall behind their optoelectronic counterparts,although they have ultralow thermal conductivities and are highly suitable for low grade heat harvesting.A major challenge is how to efficiently dope MHPs in order to achieve high electrical conductivities.As the state-of-the-art MHP for thermoelectric energy conversion,CsSnI3 shows unusual metallic behavior due to the intrinsic Sn vacancies,but it undergoes complex polymorphic phase transitions which hinders its carrier mobility.In this work,we report,for the first time,synthesis of a novel MHP-based thermoelectric device using bulk CsSnI3.This is achieved by leveraging stable polymorphic phase mixing(of orthorhombic and tetragonal phases)and electronic heterostructure.CsSnI3 synthesized by spark-plasma sintering with carbon fiber inclusion shows highly enhanced Seebeck coefficient of~250μV/K,resulting from successful control of the degree of polymorphic phase mixing.The CsSnI3 demonstrates high electrical conductivity of~8400 S/m,attributed to its high carrier mobility.Our approach to control the phase mixing suppresses lattice thermal conductivity to~0.4 W/(m K)through the phonon-boundary scattering.First-principle calculations of the two phases and the phase-interface confirm the strong effect of hybridization and reconstruction of structure at the interface of two phases,which decouples the Seebeck coefficient from electrical conductivity here.The optimized CsSnI3 achieves a power factor of 311μW/(m K2)and ZT of 0.27±0.04,the highest among all reported bulk MHPs.The MHP-based thermoelectric device operates stably across temperature differences of 40 to 260 K,delivering a power density of 3.5 W/m2.This work unlocks the potential of emerging MHPs for thermoelectric devices for low-grade heat harvesting.This could also enable synergistic cooperation between photovoltaic and thermoelectric effects in MHPs for more efficient renewable solar and thermal energy co-harvesting. 展开更多
关键词 Metal halide perovskite Thermoelectric energy conversion Polymorphic phase mixing First-principle density functional theory Electronic heterostructure
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Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution 认领 引用 被引量：1
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作者 Mariarosaria D'Amato Gennaro Iengo +1 位作者 Nicola Massa Chiara Carlomagno 《World Journal of Gastrointestinal Oncology》 SCIE 2025年第1期101-109,共9页
BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associat... BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity. 展开更多
关键词 Dihydropyrimidine dehydrogenase DPYD polymorphisms Fluoropyrimidine Caucasian population Gastrointestinal cancers
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Development of a single-nucleotide polymorphism panel genotyping system for genetic analysis of Chinese hamsters 认领 引用
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作者 Minghe Sun Yafang Guo +12 位作者 Zhengnan Ren Ang Song Jing Lu Changlong Li Jianyi Lv Meng Guo Xin Liu Xiaoyan Du Zhaoyang Chen Guohua Song Yan He Zhenwen Chen Xueyun Huo 《Animal Models and Experimental Medicine》 CAS CSCD 2025年第5期916-921,共6页
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu... Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population. 展开更多
关键词 Chinese hamster genetic analysis genetic detection single-nucleotide polymorphism
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Association of QPRT gene polymorphisms with postpartum depression in Chinese cesarean parturients:A candidate gene association study 认领 引用
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作者 ZHAO Shanshan LIN Guoxin +3 位作者 LI Ziyuan PING Anqi WANG Saiying DUAN Kaiming 《中南大学学报（医学版）》 CAS CSCD 北大核心 2025年第12期2214-2225,共12页
Objective:Postpartum depression(PPD)is a common and serious mental disorder after childbirth,imposing a heavy burden on mothers,infants,and families.Abnormalities in the tryptophan-kynurenine(TRP-KYN)metabolic pathway... Objective:Postpartum depression(PPD)is a common and serious mental disorder after childbirth,imposing a heavy burden on mothers,infants,and families.Abnormalities in the tryptophan-kynurenine(TRP-KYN)metabolic pathway are considered to be involved in its pathogenesis,but the role of quinolinic acid phosphoribosyltransferase(QPRT),a key downstream enzyme in this pathway,remains unclear.This study aims to explore the association between PPD in women undergoing cesarean section and QPRT gene polymorphisms,as well as other risk factors for PPD.Methods:A candidate gene association study design was adopted.From January 2024 to June 2025,full-term singleton pregnant women scheduled to undergo elective cesarean section under spinal anesthesia were recruited at the Third Xiangya Hospital of Central South University and Hunan Provincial Maternal and Child Health Hospital.At 42 days postpartum,postpartum depression was assessed using the Edinburgh Postnatal Depression Scale(EPDS).Peripheral blood samples were collected and genomic DNA was extracted.Four QPRT single nucleotide polymorphism loci(rs1134700,rs2303255,rs9922666,and rs9933310)were selected for genotyping to analyze the association between these loci and PPD.Bioinformatics analysis and dual-luciferase reporter gene assays were performed to investigate the possible mechanism by which significant loci influence disease occurrence.Results:A total of 362 women were ultimately included in the analysis,among whom 29 were diagnosed with PPD,with an incidence of 8.01%.Analysis of general data showed that comorbid hypertension or thyroid disease,inconsistency between neonatal sex and expectation,prenatal depression,prenatal self-harm ideation,domestic violence,poor marital and mother-in-law/daughter-in-law relationships,stressful life events,dissatisfaction with current life status,poor mood during pregnancy,and high stress during pregnancy were all risk factors for PPD in women undergoing cesarean section(all PG polymorphism was associated with PPD.Women carrying the rs9933310 GG or AG genotype had a 2.92-fold higher risk of PPD compared with women with the AA genotype(OR=2.92,95%CI 1.18 to 6.99).Expression quantitative trait loci(eQTL)analysis suggested that the G allele at this locus was associated with downregulation of QPRT expression(AA>AG>GG).Multi-database queries indicated that the rs9933310 locus may have promoter and/or enhancer activity.In addition,JASPAR database prediction and experimental validation showed that the mutant(G)allele at the QPRT rs9933310 locus was more likely than the wild-type(A)allele to weaken promoter-enhancer activity at this locus,and resulted in loss of transcription factors Gata1,GATA2,GATA3,Gata4,Sox17,Sox2,Sox3,Sox6,and SRY,thereby regulating QPRT expression.Conclusion:Comorbid hypertension or thyroid disease,inconsistency between neonatal sex and expectation,prenatal depression,prenatal self-harm ideation,domestic violence,poor marital and mother-in-law/daughter-in-law relationships,stressful life events,dissatisfaction with current life status,poor mood during pregnancy,high stress during pregnancy,and mutation at the QPRT rs9933310 locus are all risk factors for PPD.The QPRT rs9933310 G allele is an independent risk factor for PPD in women undergoing cesarean section,and its pathogenic mechanism may involve downregulation of QPRT expression and disruption of TRP-KYN pathway homeostasis.QPRT has a potential role in the pathogenesis of PPD and may become a novel antidepressant target acting on the TRPKYN pathway. 展开更多
关键词 QPRT gene postpartum depression tryptophan-kynurenine metabolic pathway single nucleotide polymorphism cesarean section parturients
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Group-specific component and 25-hydroxylase gene polymorphisms in nasopharyngeal carcinoma:Associations with susceptibility and radiotherapy response 认领 引用
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作者 Liu Liu Dian-Yu Shi +2 位作者 Jie Tan Shan Xu Chao-Ran Liu 《World Journal of Clinical Oncology》 2025年第12期118-129,共12页
BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and acti... BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and activation[25-hydroxylase(CYP2R1)enzyme],may influence NPC susceptibility and radiotherapy response.Polymorphisms in GC and CYP2R1 genes affect protein function and serum 25-hydroxyvitamin D[25(OH)D]levels,and are implicated in other cancers.However,their role in NPC-particularly in high-risk Han Chinese populations-and interaction with vitamin D status remains unclear.This case control study(360 NPC patients,550 controls)investigates these relationships to inform prevention and personalized therapy.AIM To investigate the association between vitamin D binding protein(GC)and CYP2R1 gene polymorphisms with susceptibility to NPC and radiotherapy response.METHODS A case control study design was adopted,and 360 patients with NPC and 550 healthy controls were included.TaqMan method was used to perform genotyping on GC gene loci rs4588,rs7041,and CYP2R1 gene loci rs10741657,rs12794714.Serum 25(OH)D levels were detected,and the relationship between gene polymorphisms and NPC risk and radiotherapy response was analyzed.RESULTS The GC gene rs4588 TT genotype was significantly associated with the risk of NPC in both the codominant model[odds ratio(OR)=1.68,95%CI:1.15-2.45,P=0.007]and the recessive model(OR=1.56,95%CI:1.02-2.38,P=0.039).The association between the rs4588 TT genotype and the risk of NPC was more significant in the male subgroup(OR=1.87,95%CI:1.11-3.15,P=0.019)and the squamous cell carcinoma subgroup(OR=1.89,95%CI:1.19-3.00,P=0.007).The serum 25(OH)D level of the rs7041 AA genotype carriers was significantly lower than that of the CC genotype(P<0.001).The CYP2R1 gene rs10741657 AA genotype was associated with higher serum 25(OH)D levels(P=0.003).The rs12794714 AA genotype was associated with radiotherapy resistance(OR=1.76,95%CI:1.18-2.63,P=0.005).Stratified analysis showed that the association between rs4588 and rs12794714 was significant only in the subgroup with higher 25(OH)D levels.CONCLUSION GC and CYP2R1 genes polymorphisms are associated with NPC susceptibility and radiotherapy response,and this association may be affected by serum 25(OH)D levels.This study provides a new idea for the prevention and individualized treatment in NPC. 展开更多
关键词 Group-specific component protein 25-hydroxylase Single nucleotide polymorphism Nasopharyngeal carcinoma Susceptibility Radiotherapy response
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