TITLE:
Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families
AUTHORS:
Shirley Y. Hill, Bobby L. Jones, Nicholas Zezza, Scott Stiffler
KEYWORDS:
KIAA0040; Alcohol Dependence; Multiplex Families
JOURNAL NAME:
Open Journal of Genetics,
Vol.3 No.4,
December
12,
2013
ABSTRACT: Background: A previous genome-wide linkage study of
alcohol dependence in multiplex families found a suggestive linkage result for
a region on Chromosome 1 near microsatellite markers D1S196 and D1S2878. The
KIAA0040 gene has been mapped to this region (1q24-q25). A recent genome-wide
association study using SAGE (the Study of Addiction: Genetics and Environment)
and COGA (Collaborative Study on the Genetics of Alcoholism) found five SNPs
within the KIAA0040 gene significantly associated with alcohol dependence. A
meta-analysis using data from these sources also found the KIAA0040 gene significantly associated with alcohol dependence. Methods: Using family data
consisting of 1000 individuals with phenotypic data (762 with both phenotype
and DNA), finer mapping of a 0.3 cM region that included the KIAA0040 gene and
a flanking gene was undertaken using SNPs with minor allele frequency (MAF) ≥ 0.15 and pair-wise linkage
disequilibrium (LD) of r2