A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

4区医学 Q4 Medicine

BMC Medical Genetics Pub Date : 2020-12-17 DOI:10.1186/s12881-020-01177-w

Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin, Yoon Jun Kim

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Abstract

Background: Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of complement factor B (CFB) was significantly associated with CHB risk. In this study, fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed to validate genetic effect of rs12614 on CHB susceptibility and identify possible additional causal variants around rs12614 in a Korean population. This association study was conducted in order to identify genetic effects of CFB single nucleotide polymorphisms (SNPs) and to identify additional independent CHB susceptible causal markers within a Korean population.

Methods: A total of 10 CFB genetic polymorphisms were selected and genotyped in 1716 study subjects comprised of 955 CHB patients and 761 population controls.

Results: A non-synonymous variant, rs12614 (Arg32Trp) in exon2 of CFB, had significant associations with risk of CHB (odds ratio = 0.43, P = 5.91 × 10^- 10). Additional linkage disequilibrium and conditional analysis confirmed that rs12614 had independent genetic effect on CHB susceptibility with previously identified CHB markers. The genetic risk scores (GRSs) were calculated and the CHB patients had higher GRSs than the population controls. Moreover, OR was found to increase significantly with cumulative GRS.

Conclusions: rs12614 showed significant genetic effect on CHB risk within the Korean population. As such rs12614 may be used as a possible causal genetic variant for CHB susceptibility.

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韩国人群中补体因子B的非同义变异rs12614与慢性乙型肝炎的风险相关

背景:已知乙型肝炎可引起多种形式的肝脏疾病，包括慢性乙型肝炎(CHB)和肝细胞癌。既往CHB风险全基因组关联研究表明，补体因子B (CFB) rs12614与CHB风险显著相关。在本研究中，对先前报道的GWAS单核苷酸多态性(SNP;CFB rs12614)验证了rs12614对CHB易感性的遗传效应，并在韩国人群中确定rs12614周围可能的其他因果变异。这项关联研究是为了确定CFB单核苷酸多态性(snp)的遗传效应，并在韩国人群中确定其他独立的CHB易感因果标记。方法:选取1716例CHB患者(955例)和对照组(761例)共10个CFB遗传多态性进行基因分型。结果:CFB外显子2的非同义变异rs12614 (Arg32Trp)与CHB的风险显著相关(优势比= 0.43,P = 5.91 × 10- 10)。进一步的连锁不平衡和条件分析证实，rs12614对CHB易感性具有独立的遗传效应。计算遗传风险评分(GRSs)， CHB患者的GRSs高于人群对照组。此外，OR随着GRS的累积而显著增加。结论:rs12614基因对韩国人群CHB风险具有显著的遗传影响。因此，rs12614可能是CHB易感性的一个可能的致病遗传变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Medical Genetics 医学-遗传学

自引率

0.00%

发文量

审稿时长

12 months

期刊介绍： BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease. Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.