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Hum. Genet., Jun 2013, 132 (6) | https://doi.org/10.1007/s00439-013-1281-8 Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication

Byung Lae Park ^{1 †}, Jee Wook Kim ^{2 3 †}, Hyun Sub Cheong ¹, Lyoung Hyo Kim ^{1 7}, Boung Chul Lee ^{3 4}, Cheong Hoon Seo ^{3 5}, Tae-Cheon Kang ⁶, Young-Woo Nam ⁷, Goon-Bo Kim ⁷, Hyoung Doo Shin ^{1 7 *} & Ihn-Geun Choi^{3 8 *}

¹Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, Republic of Korea
²Department of Neuropsychiatry, Hallym University Dongtan Sacred Heart Hospital, Hwaseong, Gyeonggi Province, Republic of Korea
³Hallym University Burn Institute, Seoul, Republic of Korea
⁴Department of Neuropsychiatry, Hangang Sacred Heart Hospital, Hallym University, Seoul, Republic of Korea
⁵Department of Rehabilitation Medicine, Hangang Sacred Heart Hospital, Hallym University, Seoul, Republic of Korea
⁶Department of Anatomy and Neurobiology, Institute of Epilepsy Research, Hallym University, College of Medicine, Chuncheon, Republic of Korea
⁷Department of Life Science, Sogang University, 1 Shinsu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea
⁸Department of Neuropsychiatry, Hallym University Kangnam Sacred Heart Hospital, 948-1 Daerim 1-Dong, Yeongdeungpo-Gu, Seoul, 150-950, Republic of Korea

^†B. L. Park and J. W. Kim contributed equally to this work.
^*Corresponding authors: correspondence to Hyoung Doo Shin or Ihn-Geun Choi

Abstract

Alcohol dependence (AD) is a multifactorial and polygenic disorder involving complex gene-to-gene and gene-to-environment interactions. Several genome-wide association studies have reported numerous risk factors for AD, but replication results following these studies have been controversial. To identify new candidate genes, the present study used GWAS and replication studies in a Korean cohort with AD. Genome-wide association analysis revealed that two chromosome regions on Chr. 4q22-q23 (ADH gene cluster, including ADH5, ADH4, ADH6, ADH1A, ADH1B, and ADH7) and Chr. 12q24 (ALDH2) showed multiple association signals for the risk of AD. To investigate detailed genetic effects of these ADH genes on AD, a follow-up study of the ADH gene cluster on 4q22-q23 was performed. A total of 90 SNPs, including ADH1B rs1229984 (H47R), were genotyped in an additional 975 Korean subjects. In case-control analysis, ADH1B rs1229984 (H47R) showed the most significant association with the risk of AD (p = 2.63 × 10^-21, OR = 2.35). Moreover, subsequent conditional analyses revealed that all positive associations of other ADH genes in the cluster disappeared, which suggested that ADH1B rs1229984 (H47R) might be the sole functional genetic marker across the ADH gene cluster. Our findings could provide additional information on the ADH gene cluster regarding the risk of AD, as well as a new and important insight into the genetic factors associated with AD.

논문정보

형식Research article
게재일2013년 06월 (BRIC 등록일 2025-07-02)
연구진국내 연구진
분야 의약학 > 유전 및 유전체의학
피인용횟수120회 이상 인용된 논문

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