Candidate gene analysis of alcoholism and related phenotypes

J. M. Kwon, W. Wu, D. Meyers, H. Stock, A. L. Hinrichs, R. Miller, A. M. Goate

Research output: Contribution to journalArticlepeer-review


The Collaborative Study of the Genetics of Alcoholism (COGA) has reported evidence for a susceptibility gene for alcohol dependence on chromosome 1. In addition, cocaine and marijuana dependence, alcohol dependence or depression, low level of response to alcohol and amplitude of the EEG alpha wave map within the same 20 cM interval between D1S2613 and D1S1588. We have embarked on a systematic examination of single nucleotide polymorphisms (SNPs) in the genomic sequence within and flanking the candidate genes of interest in this region. The population frequencies of these variants were determined using pooled samples, and common variants were used in family-based association studies. One candidate gene, phosphodiesterase 4B (PDE4B), is the human homologue of the Drosophila gene dunce, a gene known to be involved in an ethanol responsive pathway in fruit flies. We identified 20 SNPs lying within the gene and the flanking 10 kb of genomic sequence; 4 were selected for further genotyping experiments. The coding region of PDE4B was completely sequenced in 5 alcohol dependent probands and 5 unrelated controls. In all, we evaluated 7 SNPs in PDE4B in 142 parent/child trios derived from COGA families. No SNP was associated with the alcohol dependence phenotype. Haplotype analysis is in progress.

Original languageEnglish (US)
Pages (from-to)567
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - Oct 8 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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