Results: The SNP rs653178 in the ATXN2-SH2B3 locus was significantly associated with PAD in the discovery cohort (OR = 1.23; P = 5.59 × 10−5), in the replication cohort (OR = 1.22; 8.9 × 10−4) and in the combined cohort (OR = 1.22; P = 6.46 × 10−7). Here, ATXN2 is linked to peripheral arterial disease.