The final low frequency variant, rs79109919, causes a leucine to glutamine change at amino acid position 363, which is located in the cytoplasmic domain of the receptor. The minor allele of rs79109919 was common in African Americans (MAF=0.06) and occurred in only one European American individual (MAF=0.0003) in the primary sample. Of the 158 individuals who possessed at least one copy of the rs79109919 minor allele, 7 also possessed a copy of the rs16969968 risk allele and 1 possessed a copy of the low frequency rs80087508 variant, suggesting the independent transmission of these variants. In the primary sample, the minor allele of rs79109919 was in the risk direction in African Americans (OR=1.3, p=0.15). Meta-analysis of the primary and replication results yielded an OR=1.4 in African Americans (p=0.03) (Supplementary Table S5).
