Genetic variants on chromosome 10q11.21 are associated with ischemic stroke in the northern Chinese Han population.

Genome-wide association studies have revealed two loci (rs1746048 and rs501120) on chromosome 10q11.21 associated with atherosclerosis. The genetic variants are related to chemokine (C-X-C motif) ligand 12, which has been shown to affect atherosclerosis. This study aims to explore the associations between these loci and risk of ischemic stroke in the northern Chinese Han population. A total of 368 patients with ischemic stroke and 381 healthy controls were included in the study. The single-nucleotide polymorphisms rs501120 and rs1746048 were analyzed by polymerase chain reaction-ligation detection reaction methods. Increased risk of ischemic stroke was associated with rs1746048 in a dominant mode. The CT + TT genotype of rs1746048 was represented at an increased frequency among patients with ischemic stroke. The genotype and allele frequencies of rs501120 were similar between patients with ischemic stroke and controls. However, the rs501120 CT + CC genotype and C allele were associated with an increased risk of ischemic stroke in the male subgroup. These correlations still remained after adjusting for confounding risk factors of stroke. Here, we present a study indicating that genetic variation on chromosome 10q11.21 might contribute to stroke susceptibility.