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

• Published in: BMC medical genetics Vol. 10; no. 1; p. 81
• Main Authors: Mocci, Evelina, Concas, Maria P, Fanciulli, Manuela, Pirastu, Nicola, Adamo, Mauro, Cabras, Valentina, Fraumene, Cristina, Persico, Ivana, Sassu, Alessandro, Picciau, Andrea, Prodi, Dionigio A, Serra, Donatella, Biino, Ginevra, Pirastu, Mario, Angius, Andrea
• Format: Journal Article
• Language: English
• Published: London BioMed Central 28.08.2009; BioMed Central Ltd; BMC
• Subjects: Adult; Aged; Biomedical and Life Sciences; Biomedicine; Chromosome mapping; Cytogenetics; Female; Gene Function; Genetic aspects; Genetic Predisposition to Disease; Genome-Wide Association Study; Human Genetics; Humans; Hypertension; Hypertension - genetics; Italy; Lod Score; Male; Microsatellite Repeats - genetics; Middle Aged; Pedigree; Physiological aspects; Polymorphism, Single Nucleotide; Research Article; Risk factors; Satellite DNA; Single nucleotide polymorphisms; Italy; Minimum Allele Frequency; Essential Hypertension; Genome Wide Search; Informative Meiosis; Biallelic Marker
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/1471-2350-10-81

Background A 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. Methods We 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. Results Three 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. Conclusion Our 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.