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Genes Immun. 2019;20(1):1-9.

Identification of additional EHMT2 variant associated with the risk of chronic hepatitis B by GWAS follow-up study.

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제1저자 신중곤 · 교신저자 김윤준

소속 (11)
  1. Department of Life Science, Sogang University, 1 Shinsu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea.
  2. Research Institute for Basic Science, Sogang University, Seoul, 121-742, Republic of Korea.
  3. Department of Genetic Epidemiology, SNP Genetics, Sogang University, Inc., Taihard building 1007, 1 Shinsu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea.
  4. Department of Internal Medicine and Liver Research Institute, Seoul National University, 28 Yungun-dong, Chongro-Gu, Seoul, 110-744, Republic of Korea.
  5. Department of Internal Medicine, Seoul National University Boramae Medical Center, 20 Boramae-ro 5-gil, Dongjak-gu, Seoul, 156-707, Republic of Korea.
  6. Department of Gastroenterology, Ajou University School of Medicine, San-5 Wonchon-dong, Youngtong-gu, Suwon, 442-721, Republic of Korea.
  7. Department of Internal Medicine, Ulsan University Hospital, 877 Bangeojin Sunhwan-doro, Dong-gu, Ulsan, 682-714, Republic of Korea.
  8. Department of Internal Medicine and Liver Research Institute, Seoul National University, 28 Yungun-dong, Chongro-Gu, Seoul, 110-744, Republic of Korea. yoonjun@snu.ac.kr.
  9. Department of Life Science, Sogang University, 1 Shinsu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea. hdshin@sogang.ac.kr.
  10. Research Institute for Basic Science, Sogang University, Seoul, 121-742, Republic of Korea. hdshin@sogang.ac.kr.
  11. Department of Genetic Epidemiology, SNP Genetics, Sogang University, Inc., Taihard building 1007, 1 Shinsu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea. hdshin@sogang.ac.kr.

Abstract

Chronic hepatitis B (CHB) is a precursor to liver cirrhosis and hepatocellular carcinoma, caused by a Hepatitis B viral infection. Genome-wide association studies (GWASs) have been conducted to find genes associated with CHB risk. In previous GWAS, EHMT2 was identified as one of the susceptibility genes for CHB. To further characterize this association and discover possible causal variants, we conducted an additional association study. A total of 11 EHMT2 single-nucleotide polymorphisms (SNP) were selected and genotyped in 3902 subjects (1046 CHB patients and 2856 controls). An additional eight imputed SNPs were also included in further analysis. As a result, rs35875104 showed a strong association with the CHB, along with the previously reported genetic marker for CHB risk, rs652888 (odds ratio (OR) = 0.53, P = 2.20 × 10-8 at rs35875104 and OR = 1.58, P = 9.90 × 10-12 at rs652888). In addition, linkage disequilibrium and conditional analysis identified one SNP (rs35875104) as a novel genetic marker for CHB susceptibility. The GRSs (genetic risk scores) were calculated to visualize the combined genetic effects of all known CHB-associated loci, including EHMT2 rs35875104, which was additionally identified in this study. The findings from the present study may be useful for further understanding of the genetic etiology of CHB.

그 밖의 정보
출판 형태
Journal Article, Research Support, Non-U.S. Gov't
저널
Genes and immunity · eISSN 1476-5470
전자 출판
2017-12-14
MeSH
Genome-Wide Association Study · Hepatitis B, Chronic / genetics · Histocompatibility Antigens / genetics · Histone-Lysine N-Methyltransferase / genetics · Humans · Polymorphism, Single Nucleotide*
Substances
Histocompatibility Antigens · EHMT2 protein, human · Histone-Lysine N-Methyltransferase
참고문헌
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