Coronary Heart Disease, Susceptibility To, 9

For a discussion of genetic heterogeneity of coronary heart disease (CHD), see 607339.

Clinical Features

Engert et al. (2008) studied 133 affected and 187 unaffected individuals from 50 French Canadian families with early-onset coronary heart disease, descended from a founder population in the Saguenay-Lac-Saint-Jean region of Quebec. Probands had at least 50% stenosis in at least 2 coronary arteries before the age of 62 or 66 years for men and women, respectively; patients with familial hypercholesterolemia or with family members known to be homozygous for mutations in the lipoprotein lipase gene (LPL; 609708) were excluded.

Mapping

Engert et al. (2008) performed a genomewide scan on 119 affected and 165 unaffected individuals from 42 French Canadian families with early-onset coronary heart disease and obtained a nonparametric linkage score of 3.14 (p = 0.001) at D8S1106 on chromosome 8p22. The authors performed fine mapping on an enlarged sample of 50 families with 320 individuals and found evidence of linkage at D8S552 (NPL score = 3.53; p = 0.00033), a marker mapping to the same location as D8S1106. Engert et al. (2008) analyzed 10 candidate genes in the region, including the LPL gene, located 13 cM from the peak, but did not identify a disease-associated mutation.