Possible involvement of the circadian pathway in alcohol use disorder in a South African adolescent cohort

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• 作者：Shareefa Dalvie ; Anthony King ; George Fein ; Raj Ramesar…
• 关键词：Alcoholism ; Single nucleotide polymorphism ; Circadian
• 刊名：Metabolic Brain Disease
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：31
• 期：1
• 页码：75-80
• 全文大小：260 KB
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• 作者单位：Shareefa Dalvie (1)
  Anthony King (2)
  George Fein (3)
  Raj Ramesar (1)
  Dan J. Stein (4)
  
  1. MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa
  2. Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA
  3. Neurobehavioral Research Inc., Honolulu, HI, USA
  4. Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Neurology
  Biochemistry
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7365

文摘

Alcoholism has an estimated heritability of between 40 and 60 % and it is thought that several genes of small effect may contribute to the risk of developing this disorder. Studies of the genetics of alcohol use disorder (AUD) may, however, be confounded by issues of comorbidity. The aim of this investigation was to assess associations between variants in a range of candidate genes and AUD in a unique sample of adolescents without comorbidity. Our cohort consisted of 80 adolescents with an AUD diagnosis and 80 matched controls of mixed ancestry ethnicity. An Illumina Infinium iSelect custom 6000 bead chip was used to genotype 5348 SNPs in 378 candidate genes. Association analysis, gene-based analysis and polygenic scoring were performed. There was no statistical association between any of the investigated SNPs and AUD after correction for multiple testing. However, from the gene-based analysis it was found that the circadian rhythm genes NR1D1 and BHLHE41 are associated with AUD. While preliminary, these data provide some evidence that the circadian pathway may be relevant to the pathophysiology of AUD. Study of early onset non-comorbid populations with AUD may be useful in identifying target genes for study in larger more representative samples. Keywords Alcoholism Single nucleotide polymorphism Circadian