The aim of this study was estimate the prevalence of hypertension and to identify the underlying genetic factors in the general population of an isolated village of Sardinia: Talana (~1000 inhabitants). Several lines of evidence indicate that this village has clinical similarity to the European population, while it has more power for genetic analysis than outbred population. Voluntary participants (80%) of the entire population underwent blood tests and a standardized interview collecting demographic information, living habits, clinical and family history. Hypertension was defined as SBP>= 140 and DBP>= 90 mmHg or current treatment for hypertension. SBP and DBP were normally distributed with average of 135±20 and 80±10 mmHg respectively and 26%; of the adult population of Talana was affected by hypertension. The epidemiological survey highlighted the association of the same clinical and environmental factors which were found in different populations. Eight multigenerational pedigrees, that consisted of 332 total individuals of whom 67 were affected, were constructed. The majority of the extant Talana population was genotyped using 1054 markers, which comprehend 50% of the hypertension family members. We reconstructed a genetic map using the frequencies estimated on the entire population. GWS was performed by a non-parametric analysis using SIMWALK2. We confirmed the previously described locus on chr 2 (-log10(P):3.872) and identified 8 additional loci with suggestive significance on chr 3, 4, 10, 14, 18, 19, 20 and 22. Increasing the number of markers we confirmed the loci on chromosome 18 (-log10(P): 2,97), 20 (-log10(P):2,41) and 22 (-log10(P):4). We replicated some of results in a nearby isolated village with different founders and low genetic exchange with Talana, confirming loci on chr 18 and 20, which were previously described in different populations. We are currently investigating these loci with high density SNPs map taking advantage of the extended linkage disequilibrium in our population.
Epidemiological and genetic survey of hypertension in a Sardinian isolated population
A Angius;G Biino;M Pirastu
2005
Abstract
The aim of this study was estimate the prevalence of hypertension and to identify the underlying genetic factors in the general population of an isolated village of Sardinia: Talana (~1000 inhabitants). Several lines of evidence indicate that this village has clinical similarity to the European population, while it has more power for genetic analysis than outbred population. Voluntary participants (80%) of the entire population underwent blood tests and a standardized interview collecting demographic information, living habits, clinical and family history. Hypertension was defined as SBP>= 140 and DBP>= 90 mmHg or current treatment for hypertension. SBP and DBP were normally distributed with average of 135±20 and 80±10 mmHg respectively and 26%; of the adult population of Talana was affected by hypertension. The epidemiological survey highlighted the association of the same clinical and environmental factors which were found in different populations. Eight multigenerational pedigrees, that consisted of 332 total individuals of whom 67 were affected, were constructed. The majority of the extant Talana population was genotyped using 1054 markers, which comprehend 50% of the hypertension family members. We reconstructed a genetic map using the frequencies estimated on the entire population. GWS was performed by a non-parametric analysis using SIMWALK2. We confirmed the previously described locus on chr 2 (-log10(P):3.872) and identified 8 additional loci with suggestive significance on chr 3, 4, 10, 14, 18, 19, 20 and 22. Increasing the number of markers we confirmed the loci on chromosome 18 (-log10(P): 2,97), 20 (-log10(P):2,41) and 22 (-log10(P):4). We replicated some of results in a nearby isolated village with different founders and low genetic exchange with Talana, confirming loci on chr 18 and 20, which were previously described in different populations. We are currently investigating these loci with high density SNPs map taking advantage of the extended linkage disequilibrium in our population.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
