Impact of chromosome 12p13 variants on ischemic stroke risk

Zhang, Zhizhong; Xu, Gelin; Wei, Yongyue; Zhu, Wusheng; Fan, Xiaobing; Liu, Xinfeng

doi:10.3109/00207454.2015.1079710

Cited by 8 publications

(6 citation statements)

References 23 publications

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“…Regarding the rs11833579, some authors reported that the AA genotype increased the risk of IS [18, 29], while some authors reported an absence of association with IS [20, 23–25, 30]. Consistent with the null results, in this study, we failed to find any association of the rs11833579 with IS risk.…”

Section: Discussionsupporting

confidence: 83%

A functional variant rs12904 in the miR-200c binding site was associated with a decreased risk of ischemic stroke

et al. 2019

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Genome-wide association study (GWAS) identified chromosome 12p13 rs12425791 and rs11833579 as susceptibility loci of ischemic stroke (IS) in a European population. However, conflicting results were obtained in subsequent replication analysis. miR-200c, located on chromosome 12p13, was found to have a neuroprotective effect on ischemia. Our aim of this study was to investigate the association of the rs12425791, rs11833579 and rs12904 in the binding site of miR-200c with the risk of IS. The rs12425791, rs11833579, and rs12904 were genotyped using a TaqMan allelic discrimination assay. The results were verified by Sanger sequencing. We found that the rs12904 AG/GG genotypes and G allele were associated with a decreased risk of IS (AG/GG vs. AA: adjusted OR = 0.64; 95% CI, 0.44–0.95; G vs. A: adjusted OR = 0.65; 95% CI, 0.46–0.93). The combined genotypes of the rs11833579AG/AA and rs12904AG/GG were also associated with a reduced risk of IS (OR = 0.65; 95% CI, 0.46–0.93). These findings suggest that the rs12904 may have a jointly protective effect against the risk of IS.

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Section: Discussionsupporting

confidence: 83%

A functional variant rs12904 in the miR-200c binding site was associated with a decreased risk of ischemic stroke

et al. 2019

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“…The first to be reported was an association with the chr12p13 locus, near NINJ2 , associated with incident stroke and ischemic stroke in particular in prospective population-based cohort studies participating in the CHARGE consortium [34]. However, although the same association was reported in several Asian studies [60], it could not be replicated in a large hospital-based genetic association study of prevalent stroke in European populations [61]. One potential explanation for these discrepant results, beside type I error (false positive finding), is that the chr12p13 locus could be associated with stroke severity and mortality more than with stroke risk.…”

Section: Role Of Genetic Risk Factors In Common Multifactorial Strokementioning

confidence: 94%

Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

2016

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Understanding the genetic risk factors for stroke is an essential step to decipher the underlying mechanisms, facilitate the identification of novel therapeutic targets, and optimize the design of prevention strategies. A very small proportion of strokes are attributable to monogenic conditions, the vast majority being multifactorial, with multiple genetic and environmental risk factors of small effect size. Genome-wide association studies and large international consortia have been instrumental in finding genetic risk factors for stroke. While initial studies identified risk loci for specific stroke subtypes, more recent studies also revealed loci associated with all stroke and all ischemic stroke. Risk loci for ischemic stroke and its subtypes have been implicated in atrial fibrillation (PITX2 and ZFHX3), coronary artery disease (ABO, chr9p21, HDAC9, and ALDH2), blood pressure (ALDH2 and HDAC9), pericyte and smooth muscle cell development (FOXF2), coagulation (HABP2), carotid plaque formation (MMP12), and neuro-inflammation (TSPAN2). For hemorrhagic stroke, two loci (APOE and PMF1) have been identified.

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“…NINJ2 is a cell surface adhesion protein that is upregulated after nerve injury [16]. NINJ2 play an important role in nerve, stroke and inflammation [17][18][19][20]. We explored the effects of NINJ2 [21].…”

Section: Discussionmentioning

confidence: 99%

Effects of Ninjurin 2 Polymorphisms on Susceptibility of Coronary Heart Disease

Yan

Liu³

et al. 2020

Preprint

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Objective The aim of this study was to explore the effects of NINJ2 polymorphisms on susceptibility of coronary heart disease (CHD). Methods We conducted a case-control study with 499 CHD cases and 505 age- and sex- matched controls. Five single nucleotide polymorphisms (SNP) in NINJ2 (rs118050317, rs75750647, rs7307242, rs10849390 and rs11610368) were genotyped by Agena MassARRAY platform. Odd ratios (OR) and 95% confidence intervals (CI) were calculated using logistic regression to assess the association of NINJ2 polymorphism and CHD risk adjusting for age and gender.. Results NINJ2 rs118050317 significantly increased CHD risk among people older than 60 years old (allele: P = 0.010; heterozygote: P = 0.016; dominant: P = 0.015; additive: P = 0.021) and women (allele: P = 0.026; heterozygote: P = 0.015; dominant: P = 0.018; additive: P = 0.030). Rs118050317 and rs7307242 had strong relationship with hypertension risk in CHD patients. Additionally, rs75750647 significantly increased diabetes risk in multiple models among cases (allele: P = 0.014; homozygote: P = 0.037; heterozygote: P = 0.044; dominant: P = 0.019; additive: P = 0.013), whereas rs10849390 could protect CHD patients from diabetes in allele ( P = 0.035), homozygote ( P = 0.047) and additive ( P = 0.037) models. We also observed two block (block 1: rs118050317 and rs75750647; block 2: rs7307242, rs10849390 and rs11610368) in NINJ2 . Conclusion Our results suggest that NINJ2 polymorphisms are associated with CHD risk.

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Impact of chromosome 12p13 variants on ischemic stroke risk

Abstract: These findings indicate that rs12425791 G>A polymorphism may be a low-penetrance susceptibility marker of stroke in Asian populations and further studies are warranted to verify this association.

Cited by 8 publications

References 23 publications

A functional variant rs12904 in the miR-200c binding site was associated with a decreased risk of ischemic stroke

A functional variant rs12904 in the miR-200c binding site was associated with a decreased risk of ischemic stroke

Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

Effects of Ninjurin 2 Polymorphisms on Susceptibility of Coronary Heart Disease

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