Key result
The rs10263935 A and rs6045676 G alleles are linked to ~62% higher aortic dissection risk.
Why the study?
The role of genetic factors in aortic dissection is largely unknown despite known risk factors such as hypertension and Marfan syndrome.
Are the single nucleotide polymorphisms rs10263935 and rs6045676 associated with aortic dissection in a Chinese population?
Case-Control (n=360)
Are the single nucleotide polymorphisms rs10263935 and rs6045676 associated with aortic dissection in a Chinese population?
The genetic variants rs10263935 and rs6045676 are significantly associated with an increased risk of aortic dissection in a Chinese population, highlighting a potential genetic predisposition.
Answers are grounded in this paper and cite their sources.
These SNPs should not yet inform aortic dissection risk assessment; leaves open causal role and need for prospective validation.
Aortic dissection (AD) is a disease characterized by a tear in the aortic intimal layer and separation of the arterial wall. Some risk factors, such as hypertension and Marfan syndrome, are well known in AD, but the role of genetic factor is largely unknown. In this study, we investigated the relation between two single nucleotide polymorphisms (SNPs) identified by genome-wide association study and AD. Approximately 177 patients diagnosed with AD through clinical evaluation and imaging techniques and 183 age- and sex-matched control subjects who were suffering from chest pain but without AD were included in the study. Genotyping of rs10263935 and rs6045676 was performed in both patients and control subjects using the TaqMan(®) method [Life Technologies (AB & Invitrogen), Carlsbad, CA]. The frequency of the AA and AG genotype in rs10263935 was significantly higher in the AD patients (0.085 and 0.435, respectively) than in the control subjects (0.033 and 0.355, respectively). The rs10263935 A allele frequency in the AD patients was higher than that in the control subjects [0.302 vs 0.210, odds ratio (OR) = 1.62, 95% confidence interval (CI): 1.26-2.28, P = 0.005]. Similarly, the frequency of the GG genotype in rs6045676 was significantly higher in the AD patients than in the control subjects (0.107 vs 0.038, P = 0.015). The rs6045676 G allele frequency in the AD patients was higher than that in the control subjects (0.282 vs 0.191, OR = 1.67, 95% CI: 1.18-2.50, P = 0.004). After adjustment of the confounding factors, such as smoking, sex, and age, the differences remain significant in several models (rs10263935: GG vs AA: OR = 3.13, 95% CI: 1.15-8.33, P = 0.025; GG vs AG: OR = 1.57, 95% CI: 1.01-2.44, P = 0.045; rs6045676: GG vs CC: OR = 3.30, 95% CI: 1.32-8.25, P = 0.011). rs10263935 on chromosome 7 and rs6045676 on chromosome 20 are associated with AD. Further studies are warranted to elucidate the functional role of these two variants.
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Qin et al. (2014) conducted a case-control in Aortic dissection (n=360). rs10263935 and rs6045676 SNPs vs. Control subjects without aortic dissection was evaluated on Aortic dissection (association with rs10263935 A allele) (OR 1.62, 95% CI 1.26-2.28, p=0.005). The rs10263935 A allele and rs6045676 G allele were significantly associated with aortic dissection in a Chinese population (OR 1.62; 95% CI 1.26-2.28 and OR 1.67; 95% CI 1.18-2.50, respectively).
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