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

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  • Additional Information
    • Contributors:
      서정연; 신중곤; 윤병주; 남궁석; 정현섭; 김령효; 김지온; 신형두; 김윤준
    • Publication Information:
      BMC
    • Publication Date:
      2020
    • Collection:
      Seoul National University: S-Space
    • 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. ; This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (Grant No. 2017R1D1A1B03030763), the Ministry of Education, Science and Technology (NRF-2015R1A2A1A15053987), and grants from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) funded by the ...
    • Relation:
      BMC Medical Genetics. 2020 Dec 17;21(1):241; https://hdl.handle.net/10371/173440
    • Accession Number:
      10.1186/s12881-020-01177-w
    • Online Access:
      https://hdl.handle.net/10371/173440
      https://doi.org/10.1186/s12881-020-01177-w
    • Rights:
      The Author(s)
    • Accession Number:
      edsbas.8A7996D3