Highlights
- •Both rs12425791 and rs11833579 were associated with increased risk of LAA stroke.
- •The variant carriers had significantly decreased NINJ2 mRNA expression levels in CHB.
- •Chromosome 12p13 variants might be used as biomarkers for LAA stroke susceptibility.
Abstract
Recently, a genome-wide association study (GWAS) identified two common variants (rs12425791
and rs11833579) on Chromosome 12p13 that confer risk for stroke. The aim of this study
was to evaluate whether these two variants are associated with risk of large artery
atherosclerotic (LAA) stroke in a Chinese population. Rs12425791 and rs11833579 were
genotyped using the improved multiple ligase detection reaction in 423 patients with
LAA stroke and 423 healthy controls. We found a statistically significantly increased
risk of LAA stroke associated with the rs12425791AA genotype (OR = 2.28, 95% CI = 1.15–4.51) and rs11833579 AA genotype (OR = 1.92, 95% CI = 1.16–3.15) compared with their GG genotype. When we evaluated these two polymorphisms
together, we found that the combined genotypes with 3–4 variant alleles (rs12425791A
and rs11833579A) were associated with an increased risk of LAA stroke (OR = 2.06, 95% CI = 1.26–3.36) compared to 0–2 variants. Moreover, genotype–phenotype correlation analysis
showed that rs12425791AA and rs11833579AA carriers had significantly decreased NINJ2 mRNA expression levels in the Chinese population (P = 0.003 for rs12425791 and P = 0.005 for rs11833579). These results suggested that the rs12425791 and rs11833579
polymorphisms on Chromosome 12p13 may be associated with the risk of LAA stroke and
might be used as candidate biomarkers for LAA stroke susceptibility.
Abbreviations:
GWAS (genome-wide association study), SNP (single nucleotide polymorphism), LAA (large artery atherosclerotic), LD (linkage disequilibrium)Keywords
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Article info
Publication history
Published online: June 30, 2015
Accepted:
June 29,
2015
Received in revised form:
June 26,
2015
Received:
September 6,
2014
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
