Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populationsReport as inadecuate




Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations - Download this document for free, or read online. Document in PDF available to download.

BMC Medical Genetics

, 10:81

First Online: 28 August 2009Received: 06 August 2008Accepted: 28 August 2009

Abstract

BackgroundA multiplicity of study designs such as gene candidate analysis, genome wide search GWS and, recently, whole genome association studies have been employed for the identification of the genetic components of essential hypertension EH. Several genome-wide linkage studies of EH and blood pressure-related phenotypes demonstrate that there is no single locus with a major effect while several genomic regions likely to contain EH-susceptibility loci were validated by multiple studies.

MethodsWe carried out the clinical assessment of the entire adult population in a Sardinian village Talana and we analyzed 16 selected families with 62 hypertensive subjects out of 267 individuals. We carried out a double GWS using a set of 902 uniformly spaced microsatellites and a high-density SNPs map on the same group of families.

ResultsThree loci were identified by both microsatellites and SNP scans and the obtained linkage results showed a remarkable degree of similarity. These loci were identified on chromosome 2q24, 11q23.1–25 and 13q14.11–21.33. Further support to these findings is their broad description present in literature associated to EH or related phenotypes. Bioinformatic investigation of these loci shows several potential EH candidate genes, several of whom already associated to blood pressure regulation pathways.

ConclusionOur search for major susceptibility EH genetic factors evidences that EH in the genetic isolate of Talana is due to the contribution of several genes contained in loci identified and replicated by earlier findings in different human populations.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-10-81 contains supplementary material, which is available to authorized users.

Evelina Mocci, Maria P Concas contributed equally to this work.

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Author: Evelina Mocci - Maria P Concas - Manuela Fanciulli - Nicola Pirastu - Mauro Adamo - Valentina Cabras - Cristina Fraumene -

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