Another MVP GWAS considered both AUD and AUDIT-C14 in a multi-ancestry sample (N = 274,424) using electronic health record (EHR) data. ADH1B was again the lead locus (for both traits), and the lead SNPs were the same as those observed in the MaxAlc study, but this larger study identified 18 GWS loci — five associated with both traits (e.g., ADH1B), eight associated with AUDIT-C only (e.g., VRK serine/threonine kinase 2 (VRK2) and klotho beta (KLB)), and five associated with AUD diagnosis only (e.g., SIX homeobox 3 (SIX3) and dopamine receptor D2 (DRD2)). AUD and AUDIT-C had a genetic correlation of only 0.52; unsurprisingly, considering the moderate correlation between these two traits, they showed differing correlations with other traits. AUD tended to be positively correlated with other psychiatric traits (such as schizophrenia) whereas AUDIT-C was not correlated with psychiatric diagnoses, but was correlated with some healthy traits and behaviours (e.g., educational attainment). This might be because AUDIT-C indexes alcohol consumption more in the normal ‘social drinking’ range, whereas AUD is more sensitive to problematic drinking, i.e. in the pathological range.
