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Association study between CDH13 rs12444338 polymorphism and essential hypertension in Koreans
신촌세브란스병원 심장내과¹,신촌세브란스병원 심혈관유전체센터²
신동직² , 이상학¹,²,박아람 ² ,박성하¹ ,² ,강석민¹ ,장양수¹ ,² ,정남식¹
Essential Hypertension (EH) is a complex trait disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, discovery and identification of genes responsible for its regulation has remained challenging. The CDH13 gene, encodes for an adhesion glycoprotein T-cadherin, a regulator of vascular wall remodeling and angiogenesis. Therefore, we hypothesized that CDH13 gene might be attributable to the variation of susceptibility to EH. We examined 238 patients with EH (118 men) and 260 healthy controls (131 men) in this study. Participants were drawn from the patient database of Cardiovascular Genome Center at Yonsei University Health System. We identified 7 tagging-single nucleotide polymorphisms (SNPs) in the CDH13 gene by whole gene sequencing, and genotyped using the TaqMan® assay. The allele and genotype frequencies of CDH13 rs12444338 SNP were significantly differences between case and control groups (P=0.038 and P=0.034, respectively). The T allele of rs12444338 was associated with an increased risk of EH (OR 1.77, 95% CI 1.06-2.94, P=0.028) after correction for confounding factors. These findings provide that the CDH13 gene polymorphism (rs12444338) is a possible genetic risk factor for EH in Koreans. Further investigations are required to evaluate relationship between CDH13 gene SNP (rs12444338) and functional consequences that lead to EH or BP.


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