Associations between Extracellular Matrix Protein 1 Gene Polymorphism and Progression of Liver Disease.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY Genetics research Pub Date : 2022-01-01 DOI:10.1155/2022/9304264

Xiuting He, Ting Liu, Rui Zhang, Xu Li

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Abstract

Background: Our study aimed to investigate the relationship between extracellular matrix 1 (ECM1) gene polymorphism and progression of liver fibrosis in the Chinese population.

Methods: A total 656 patients with hepatitis B virus (HBV) infection and 298 healthy individuals of the Chinese Han population were recruited for a retrospective case-control study. Of the disease group, 104 cases had chronic hepatitis B (CHB), 266 had LC, and 286 had hepatocellular carcinoma (HCC). Subjects were frequency-matched according to age and gender. Polymorphisms of the ECM1 gene were examined using the MassARRAY SNP genotyping method.

Results: There were no associations between genotype and allele frequencies of ECM1 rs3737240 and rs13294 loci with the risk of CHB and CHB-related HCC. After adjustment for age, sex, smoking status, and drinking habits, the GT genotype was dramatically related to a reduced risk of chronic HBV infection in both non-HCC (OR = 0.68, 95% CI: 0.49-0.94) and total chronic HBV infection patients (OR = 0.75, 95% CI: 0.56-1.00). Haplotype analyses revealed twelve protective haplotypes against total chronic HBV infection and four against non-HCC chronic HBV infection.

Conclusion: ECM1 gene polymorphism in rs3834087 and rs3754217 loci is associated with a reduced risk of chronic HBV infection but not with liver fibrosis development and the occurrence of HCC.

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细胞外基质蛋白1基因多态性与肝脏疾病进展的关系

背景:本研究旨在探讨中国人群中细胞外基质1 (ECM1)基因多态性与肝纤维化进展的关系。方法:对656例乙型肝炎病毒(HBV)感染者和298例健康汉族人群进行回顾性病例对照研究。本组慢性乙型肝炎104例，LC 266例，肝细胞癌286例。受试者根据年龄和性别进行频率匹配。采用MassARRAY SNP基因分型方法检测ECM1基因多态性。结果:ECM1 rs3737240和rs13294位点的基因型和等位基因频率与CHB和CHB相关性HCC的风险无相关性。在调整了年龄、性别、吸烟状况和饮酒习惯后，GT基因型与非hcc (OR = 0.68, 95% CI: 0.49-0.94)和总体慢性HBV感染患者(OR = 0.75, 95% CI: 0.56-1.00)的慢性HBV感染风险降低显著相关。单倍型分析显示，12种保护性单倍型可抵抗全部慢性HBV感染，4种可抵抗非hcc慢性HBV感染。结论:rs3834087和rs3754217位点的ECM1基因多态性与慢性HBV感染风险降低相关，但与肝纤维化发展和HCC发生无关。

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.