The strongest evidence for association was between DSM-IV symptom count, max drinks (the P-values differed by only 1.0 × 10−4), and a widely studied non-synonymous coding SNP in ADH1B, rs1229984. This SNP results in a histidine to arginine substitution and has been shown to affect the kinetic properties of the enzyme, with V(max) of ethanol oxidation differing by 100-fold between minor and major allele homozygotes (Matsuo et al., 1989), and has also been shown to affect alcohol-related phenotypes in numerous populations (Shea et al., 2001; Carr et al., 2002; Chai et al., 2005). Our results replicate the previous findings in a community-based sample. The 4% minor allele frequency observed in this population lies within the range observed in previous samples of European Americans (MAF = 0.00 – 0.12), although it is higher than the MAF observed in similar sized alcohol association studies (Edenberg et al., 2006; Kuo et al., 2008; Goedde et al., 1992; Hashibe et al., 2008).
