Org, E. et al. (2009) Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations. Human Molecular Genetics, 18(12), pp. 2288-2296. (doi: 10.1093/hmg/ddp135)
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Publisher's URL: http://dx.doi.org/10.1093/hmg/ddp135
Abstract
Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, identification of genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) is a novel approach to search for genetic variants contributing to complex diseases. We conducted GWAS for three BP traits [systolic and diastolic blood pressure (SBP and DBP); hypertension (HYP)] in the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) S3 cohort (n = 1644) recruited from general population in Southern Germany. GWAS with 395 912 single nucleotide polymorphisms (SNPs) identified an association between BP traits and a common variant rs11646213 (T/A) upstream of the CDH13 gene at 16q23.3. The initial associations with HYP and DBP were confirmed in two other European population-based cohorts: KORA S4 (Germans) and HYPEST (Estonians). The associations between rs11646213 and three BP traits were replicated in combined analyses (dominant model: DBP, P = 5.55 × 10<sup>–5</sup>, effect –1.40 mmHg; SBP, P = 0.007, effect –1.56 mmHg; HYP, P = 5.30 × 10<sup>−8</sup>, OR = 0.67). Carriers of the minor allele A had a decreased risk of hypertension. A non-significant trend for association was also detected with severe family based hypertension in the BRIGHT sample (British). The novel susceptibility locus, CDH13, encodes for an adhesion glycoprotein T-cadherin, a regulator of vascular wall remodeling and angiogenesis. Its function is compatible with the BP biology and may improve the understanding of the pathogenesis of hypertension.
Item Type: | Articles |
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Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Dominiczak, Professor Anna and Connell, Professor John |
Authors: | Org, E., Eyheramendy, S., Juhanson, P., Gieger, C., Lichtner, P., Klopp, N., Veldre, G., Doring, A., Viigimaa, M., Sober, S., Tomberg, K., Eckstein, G., Kelgo, P., Rebane, T., Shaw-Hawkins, S., Howard, P., Onipinla, A., Dobson, R. J., Newhouse, S. J., Brown, M., Dominiczak, A., Connell, J., Samani, N., Farrall, M., Caulfield, M. J., Munroe, P. B., Illig, T., Wichmann, H.-E., Meitinger, T., and Laan, M. |
College/School: | College of Medical Veterinary and Life Sciences College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health |
Journal Name: | Human Molecular Genetics |
Publisher: | Oxford University Press |
ISSN: | 0964-6906 |
ISSN (Online): | 1460-2083 |
Published Online: | 20 March 2009 |
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