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J Mol Neurosci (2013) 51:394400 DOI 10.1007/s12031-013-0025-5
Genetic Variants on Chromosome 10q11.21 are Associated with Ischemic Stroke in the Northern ChineseHan Population
Ruixia Zhu & Xu Liu & Zhiyi He
Received: 11 March 2013 /Accepted: 30 April 2013 /Published online: 12 May 2013 # Springer Science+Business Media New York 2013
Abstract 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 reactionligation 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.
Keywords Ischemic stroke . Polymorphism . CXCL12 . Chromosome 10q11.21
Introduction
Stroke has become one of the major causes of death and long-term severe disability in China (Liu et al. 2011, 2007; Jia et al. 2010). Ischemic stroke (IS) is the most common type of stroke in China, as in other countries, accounting for 43 to 79 % of all strokes (Liu et al. 2011). Ischemic strokes occur as the result of an obstruction within a blood vessel supplying blood to the brain. Only a minority of patients have access to thrombolysis therapy because of a limiting time window for treatment (Jia et al. 2010). It is well known that most complex diseases involve a combination of genetic variants and environmental factors, and this is also true for IS (Domingues-Montanari et al. 2008). Recently, several candidate genes have...