A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean populati
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RESEARCH ARTICLE
Open Access
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population Jung Yeon Seo1,2†, Joong-Gon Shin1,3†, Byeong Ju Youn2, Suhg Namgoong2,4, Hyun Sub Cheong4, Lyoung Hyo Kim4, Ji On Kim3, Hyoung Doo Shin2,3,4* and Yoon Jun Kim5*
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. Keywords: CFB, Genetic risk scores, Hepatitis B, Korean population, Liver disease
* Correspondence: [email protected]; [email protected] † Jung Yeon Seo and Joong Gon Shin contributed equally to this work. 2 Department of Life Science, Sogang University, Seoul 04107, Republic of Korea 5 Department of Internal Medicine and Liver Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea Full list of author information is available at the end of the article
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