The SNP rs653178 in the ATXN2-SH2B3 locus was significantly associated with PAD in the discovery (OR = 1.23; p = 5.59 × 10−5), replication (OR = 1.22; 8.9 × 10−4), and combined (OR = 1.22; p = 6.46 × 10−7) cohorts. This evidence concerns the gene SH2B3 and peripheral arterial disease.