ArticleAlcoholism, clinical and experimental research2012
Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence.
Article in Alcoholism, clinical and experimental research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Genome-wide meta-analysis of copy number variations with alcohol dependence.The pharmacogenomics journal · 2018Pooled it
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- Investigating transcription factor synergism in humans.DNA research : an international journal for rapid publication of reports on genes and genomes · 2018Article
- Shared additive genetic influences on DSM-IV criteria for alcohol dependence in subjects of European ancestry.Addiction (Abingdon, England) · 2015Article
- Copy number variations in the genome of the Qatari population.BMC genomics · 2015Article
- Genetics of alcoholism.Current psychiatry reports · 2014Review
- Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups.Alcoholism, clinical and experimental research · 2014Article
- A brief history of research on the genetics of alcohol and other drug use disorders.Journal of studies on alcohol and drugs. Supplement · 2014Review
- Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.Genetic testing and molecular biomarkers · 2013Article
- Genetic resistance to liver fibrosis on A/J mouse chromosome 17.Alcoholism, clinical and experimental research · 2013Article
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19 authors at 8 institutions in 1 country.
Funding
Abstract
backgroundExcessive alcohol use is the third leading cause of preventable death and is highly correlated with alcohol dependence, a heritable phenotype. Many genetic factors for alcohol dependence have been found, but many remain unknown. In search of additional genetic factors, we examined the association between Diagnostic and StatisticalManual of Mental Disorders, Fourth Edition (DSM-IV) alcohol dependence and all common copy number variations (CNVs) with good reliability in the Study of Addiction: Genetics and Environment (SAGE).
methodsAll participants in SAGE were interviewed using the Semi-Structured Assessment for the Genetics of Alcoholism, as a part of 3 contributing studies. A total of 2,610 non-Hispanic European American samples were genotyped on the Illumina Human 1M array. We performed CNV calling by CNVPartition, PennCNV, and QuantiSNP, and only CNVs identified by all 3 software programs were examined. Association was conducted with the CNV (as a deletion/duplication) as well as with probes in the CNV region. Quantitative polymerase chain reaction (qPCR) was used to validate the CNVs in the laboratory.
resultsCNVs in 6q14.1 (p = 1.04 × 10(-6)) and 5q13.2 (p = 3.37 × 10(-4)) were significantly associated with alcohol dependence after adjusting multiple tests. On chromosome 5q13.2, there were multiple candidate genes previously associated with various neurological disorders. The region on chromosome 6q14.1 is a gene desert that has been associated with mental retardation and language delay. The CNV in 5q13.2 was validated, whereas only a component of the CNV on 6q14.1 was validated by qPCR. Thus, the CNV on 6q14.1 should be viewed with caution.
conclusionsThis is the first study to show an association between DSM-IV alcohol dependence and CNVs. CNVs in regions previously associated with neurological disorders may be associated with alcohol dependence.
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