Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0030860
Title: Genome-wide association study of copy number variants suggests ltbp1 and fgd4 are important for alcohol drinking
Authors: Pei Y.-F.
Zhang L.
Yang T.-L.
Han Y.
Hai R.
Ran S.
Tian Q.
Shen H. 
Li J.
Zhu X.-Z.
Luo X.
Deng H.-W.
Keywords: 4 aminobutyric acid A receptor
protein Cdc42
transforming growth factor beta1
actin binding protein
FGD4 protein, human
latent transforming growth factor beta binding protein
LTBP1 protein, human
adult
alcohol consumption
alcohol metabolism
article
Caucasian
Chinese
controlled study
copy number variation
DNA flanking region
down regulation
female
FGD4 gene
gene
gene function
gene identification
gene interaction
gene location
genetic association
genetic susceptibility
genotype
human
latent transforming growth factor beta binding protein 1 gene
male
promoter region
Asian
drinking behavior
genetics
genotyping technique
middle aged
single nucleotide polymorphism
Adult
Alcohol Drinking
Asian Continental Ancestry Group
DNA Copy Number Variations
European Continental Ancestry Group
Female
Genome-Wide Association Study
Genotyping Techniques
Humans
Latent TGF-beta Binding Proteins
Male
Microfilament Proteins
Middle Aged
Polymorphism, Single Nucleotide
Issue Date: 2012
Citation: Pei Y.-F., Zhang L., Yang T.-L., Han Y., Hai R., Ran S., Tian Q., Shen H., Li J., Zhu X.-Z., Luo X., Deng H.-W. (2012). Genome-wide association study of copy number variants suggests ltbp1 and fgd4 are important for alcohol drinking. PLoS ONE 7 (1) : e30860. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0030860
Abstract: Alcohol dependence (AD) is a complex disorder characterized by psychiatric and physiological dependence on alcohol. AD is reflected by regular alcohol drinking, which is highly inheritable. In this study, to identify susceptibility genes associated with alcohol drinking, we performed a genome-wide association study of copy number variants (CNVs) in 2,286 Caucasian subjects with Affymetrix SNP6.0 genotyping array. We replicated our findings in 1,627 Chinese subjects with the same genotyping array. We identified two CNVs, CNV207 (combined p-value 1.91E-03) and CNV1836 (combined p-value 3.05E-03) that were associated with alcohol drinking. CNV207 and CNV1836 are located at the downstream of genes LTBP1 (870 kb) and FGD4 (400 kb), respectively. LTBP1, by interacting TGFB1, may down-regulate enzymes directly participating in alcohol metabolism. FGD4 plays a role in clustering and trafficking GABA A receptor and subsequently influence alcohol drinking through activating CDC42. Our results provide suggestive evidence that the newly identified CNV regions and relevant genes may contribute to the genetic mechanism of alcohol dependence. © 2012 Pei et al.
Source Title: PLoS ONE
URI: https://scholarbank.nus.edu.sg/handle/10635/162004
ISSN: 19326203
DOI: 10.1371/journal.pone.0030860
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