Alcoholism Clinical and Experimental Research · 2014 · 14 citations · 23 references
Life SciencesGeneticsPsychiatryHuman GeneticsMedical GeneticsPharmacogeneticsAlcohol Use DisorderGenome-wide Association StudiesPharmacogenetic TestingPsychiatric EpidemiologyPsychiatric GeneticsReceptor PolymorphismsGenetic Replication StudiesRisk Gene VariantsSerotonergic ModulationSerotonergic System EffectsSerotonin Receptor PolymorphismsSerotonin ReceptorsSingle Nucleotide Polymorphism Association StudiesSingle-nucleotide Polymorphisms
BACKGROUND: A recent genome-wide association study has identified 5-hydroxytrytamine (serotonin) receptor 7, adenylate cyclase-coupled (HTR7) as a risk gene for alcohol dependence. In addition, the serotonergic system has been considered as a modulator that plays an important role in alcohol use disorders. Functional, pharmacological, and genetic studies of serotonin neurotransmission have revealed that serotonin receptors are potential targets for the treatment of alcohol use disorders. The aim of this study is to investigate whether associations between HTR7 genetic polymorphisms and alcohol dependence could be replicated. METHODS: This study genotyped a total of 22 common single nucleotide polymorphisms (SNPs) in 459 alcoholic patients and 444 nonalcoholic controls. RESULTS: Logistic regression analysis of the case-control study, controlling for age and sex as covariates, showed nominal associations of 7 SNPs (p = 0.02 to 0.04; odds ratio = 0.60 to 1.35). In further linear regression analysis based on the Alcohol Use Disorders Identification Test score for alcohol dependence, 8 SNPs and 3 haplotypes showed relatively significant associations with alcohol dependence (minimum p = 0.001; p(corr) = 0.02). CONCLUSIONS: Although further replications and functional evaluations are needed, our findings suggest that genetic variations of HTR7 may contribute to the predisposition for alcohol dependence.
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John B. Saunders, Olaf Gjerløw Aasland, Thomas F. Babor et al. · Addiction · 1993 · 13.3K citations
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
E Emison, Andrew S. McCallion, Carl Kashuk et al. · Nature · 2005 · 466 citations