Article
American Journal of Hypertension (2009); 22, 6, 663–668. doi:10.1038/ajh.2009.46
A Quantitative Trait Locus for SBP Maps Near KCNB1 and PTGIS in a Population Isolate
Maja Barbali
1,2, Nina Smolej Naran
i1, Tatjana 
kari-Juri1, Marijana Perii Salihovi1, Irena Martinovi Klari1, Lovorka Bara Lauc1, Branka Janiijevi1, Martin Farrall3, Igor Rudan4,5, Harry Campbell4, Alan F. Wright6, Nicholas D. Hastie6 and Pavao Rudan1
- 1Institute for Anthropological Research, Zagreb, Croatia
- 2Human Genetics Center, University of Texas, Health Science Center, Houston, Texas, USA
- 3Department of Cardiovascular Medicine, University of Oxford, The Wellcome Trust Centre for Human Genetics, Oxford, UK
- 4Community Health Sciences, University of Edinburgh, Medical School, Edinburgh, UK
- 5Croatian Center for Global Health, Faculty of Medicine, University of Split, Split, Croatia
- 6MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Correspondence: Maja Barbali, (maja.barbalic@uth.tmc.edu)
Received 29 September 2008; First Decision 3 November 2008; Accepted 8 February 2009; Published online 5 March 2009.
Abstract
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.
American Journal of Hypertension 2009; doi:10.1038/ajh.2009.46
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