A GWAS on AUDIT score in a basically healthy European-American (EA) population provided evidence for association with rs141973904, an uncommon allele (MAF = 0.016) in ADH1C (p = 4.4×10−7) (Sanchez-Roige et al., 2017). The minor allele of rs141973904 is found with the allele of rs1693482 that encodes ADH1C*1 (D’=1) but because of the large difference in allele frequencies their correlation is very low (r2 = 0.01). Rs141973904 is also in high LD with rs1229984 (ADH1B*2; D’ = 1, r2 = 0.54), which was not available for testing but might well have been the functional allele responsible for the finding.
