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Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

ABSTRACT: Alcohol-related behaviors are moderately heritable and have ethnic-specific characteristics. At present, genetic studies for alcohol dependence (AD) in Chinese populations are underrepresented. We are the first to conduct a genome-wide association study (GWAS) for AD using 533 male alcoholics and 2848 controls of Han Chinese ethnicity and replicate our findings in 146 male alcoholics and 200 male controls. We then assessed genetic effects on AD characteristics (drinking volume/age onset/Michigan Alcoholism Screening Test (MAST)/Barratt Impulsiveness Scale (BIS-11)), and compared the polygenic risk of AD in Han Chinese with other populations (Thai, European American and African American). We found and validated two significant loci, one located in 4q23, with lead SNP rs2075633*ADH1B (Pdiscovery?=?6.64?×?10-16) and functional SNP rs1229984*ADH1B (Pdiscovery?=?3.93?×?10-13); and the other located in 12q24.12-12q24.13, with lead SNP rs11066001*BRAP (Pdiscovery?=?1.63?×?10-9) and functional SNP rs671*ALDH2 (Pdiscovery?=?3.44?×?10-9). ADH1B rs1229984 was associated with MAST, BIS_total score and average drinking volume. Polygenic risk scores from the Thai AD and European American AD GWAS were significantly associated with AD in Han Chinese, which were entirely due to the top two loci, however there was no significant prediction from African Americans. This is the first case-control AD GWAS in Han Chinese. Our findings demonstrate that these variants, which were highly linked with ALDH2 rs671 and ADH1B rs1229984, were significant modulators for AD in our Han Chinese cohort. A larger replication cohort is still needed to validate our findings.

SUBMITTER: Sun Y

PROVIDER: S-EPMC6779867 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

Sun Yan Y Chang Suhua S Wang Fan F Sun Hongqiang H Ni Zhaojun Z Yue Weihua W Zhou Hang H Gelernter Joel J Malison Robert T RT Kalayasiri Rasmon R Wu Ping P Lu Lin L Shi Jie J

Translational psychiatry 20191007 1

Alcohol-related behaviors are moderately heritable and have ethnic-specific characteristics. At present, genetic studies for alcohol dependence (AD) in Chinese populations are underrepresented. We are the first to conduct a genome-wide association study (GWAS) for AD using 533 male alcoholics and 2848 controls of Han Chinese ethnicity and replicate our findings in 146 male alcoholics and 200 male controls. We then assessed genetic effects on AD characteristics (drinking volume/age onset/Michigan ...[more]

PMID: 31591379

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Project description:BackgroundIn China, there has never been a comprehensive analysis of lung cancer-associated genetic mutations focused on ethnic minorities in the southwestern region. Our study aimed to provide valuable information on lung cancer-associated genetic alterations for cancer diagnosis and treatment, especially in ethnic minorities.MethodsRetrospective data acquisition was conducted spanning 3 years (2016.01-2019.06) among all patients who were diagnosed with lung cancer at the Third Affiliated Hospital of Kunming Medical University Hospital. A total of 5,167 patients including 373 ethnic minorities were included in this study. Propensity score matching (PSM) was used to eliminate the bias between Han and other ethnic minorities, including gender, age, smoking history, metastasis status, clinical stage, histological type, sample type, region, and Xuanwei origin. All tests were two-tailed, and significance was defined as P less than 0.05.ResultsIn terms of the prevalence of EGFR, EGFR L858R, EGFR T790M, ROS1, RET, MET, BRAF, and ERBB2 mutations, there was no significant difference among ethnic groups in Yunnan Province (P>0.05). A higher proportion of EGFR 19 deletion was observed in Hui patients with lung cancer compared with patients of other ethnicities in Yunnan (P=0.048). The prevalence of KRAS mutations was higher in Hani (17.65%, 3/17) and Han patients (11.44%, 80/699) than that in other Yunnan ethnicities (6.04%, 9/149; P=0.07). In Hui patients, ALK fusion was correlated with a history of non-smoking and male gender. In Bai patients, BRAF mutation was also correlated with a history of non-smoking. In all ethnic groups, EGFR mutation was more frequent in women.ConclusionsThis study is the first in-depth large case-control study on genetic mutation profiles among multi-ethnic patients in southwestern China, especially focused on ethnic minorities in this area. Our study may facilitate the understanding of the etiology of this malignant disease and consequently help to reduce the incidence of lung cancer in Yunnan ethnic minority areas.

Dataset Information

Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

Publications

Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

Similar Datasets

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