Naslov
A Quantitative Trait Locus for SBP Maps Near KCNB1 and PTGIS in a Population Isolate

Autori
Barbalić, Maja ; Smolej Narančić, Nina ; Škarić-Jurić, Tatjana ; Peričić Salihović, Marijana ; Martinović Klarić, Irena ; Barač Lauc, Lovorka ; Janićijević, Branka ; Farrall, Martin ; Rudan, Igor ; Campbell, Harry ; Wright, Alan F. ; Hastie, Nicholas D. ; Rudan, Pavao

Izvornik
American Journal of Hypertension (0895-7061) 22 (2009), 6; 663-668

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
blood pressure; genetics; polymorphisms; population isolates

Sažetak
Background: Population isolates are characterized by simplified genetic background and as such present promising opportunities for studying complex diseases. We performed a genome-wide linkage analysis for systolic (SBP) and diastolic blood pressure (DBP) followed up by the association analysis in the Croatian isolated island of Vis, where a very high prevalence of hypertension was reported (75%). Methods: Variance-components linkage analysis was used to map quantitative trait loci (QTL) for SBP and DBP in 125 families with 1, 389 members. Follow-up association analysis was performed in a sample of 421 subjects from the island of Vis. The 15 top-ranking single nucleotide polymorphisms (SNPs) were selected and tested for the association by in silico replication in the British 1958 Birth Cohort DNA Collection. Results: Linkage results showed evidence for a QTL influencing DBP (lod = 1.89) on chromosome 7p14.2 and two QTL influencing SBP (lod = 2.03 on chromosome 1p36 and lod = 1.75 on chromosome 20q13). For the association results, the replication was observed for the rs237484 polymorphism on chromosome 20 that was associated with SBP with the effect size = -5.2 (P = 0.001 ; per A allele) in Vis population and = -1.1 (P = 0.04) in the British 1958 Birth Cohort. rs237484 is in proximity to the potassium voltage gate channel gene (KCNB1) and close to the prostaglandin I2 (prostacyclin) synthase gene (PTGIS). Conclusions: These results provide evidence of a QTL influencing blood pressure (BP) variability in this region and support the notion that the isolated population of the island of Vis is a suitable population for conducting linkage and association analyses of cardiovascular-related phenotypes.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija

POVEZANOST RADA