Use of the Norfolk Island Genetic Isolate to Identify Genetic Risk Factors for CVD.

Abstract

Geographical isolation and limited environmental variation make genetic isolates powerful tools for gene mapping. Our research is aimed at identifying the genes that play a role in cardiovascular disease (CVD) risk and the Norfolk Population may be of significant use in these endeavours. Norfolk Islanders are primarily descended from 18th Century English (Bounty) sailors and Polynesian women. There have strong family groupings and well-documented family histories, providing unique characteristics for a genomic investigation into complex disease. We have recruited individuals from this isolate, to investigate the genes involved in CVD. DNA samples from two-thirds of the Islands' adult permanent population have been prepared for these studies. 602 individuals have been collected with information and phenotypes relating to risk of cardiovascular disease including blood pressure, cholesterol, triglyceride, BMI, exercise, smoking levels and diet. Most of these individuals fit within a single large, 12-generational (~6500 individuals) pedigree extending back to the original founders. Heritability and power estimates indicate that this population should be particularly useful for identifying QTL that relate to CVD risk. We conclude that the pedigree should provide a unique and powerful resource for complex disease gene mapping and we are currently investigating implicated genomic loci.