Browse

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

Cited 0 time in Web of Science Cited 0 time in Scopus
Authors
Seo, Jung Yeon; Shin, Joong-Gon; Youn, Byeong Ju; Namgoong, Suhg; Cheong, Hyun Sub; Kim, Lyoung Hyo; Kim, Ji On; Shin, Hyoung Doo; Kim, Yoon Jun
Issue Date
2020-12-17
Publisher
BMC
Citation
BMC Medical Genetics. 2020 Dec 17;21(1):241
Keywords
CFBGenetic risk scoresHepatitis BKorean populationLiver disease
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.
ISSN
1471-2350
Language
English
URI
https://hdl.handle.net/10371/173440
DOI
https://doi.org/10.1186/s12881-020-01177-w
Files in This Item:
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse