Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec

A total of 35 homozygous and 1320 heterozygous patients with familial hypercholesterolemia (FH) was screened for the presence of six low‐density lipoprotein receptor (LDLR) gene mutations previously reported among French‐Canadians. The geographic distribution of patients' birthplaces and the relative prevalence of these six mutations in the LDLR gene in the province of Quebec were compared. For this purpose, the 16 administrative regions of the province of Quebec were grouped into seven geographic regions. The relative frequency of the six mutations differed in the seven regions: the > 15 kb deletion (& Delta; >15 kb) had the highest relative frequency in the Bas St‐Laurent/Gaspésie region, and the point mutation in exon 3 had the highest relative frequency in the Saguenay‐Lac‐St‐Jean/Cǒte‐Nord region. In the Montreal area, the Δ >15 kb and the mutation in exon 3 had prevalence rates of 71.2% and 13.0%, respectively, whereas the relative frequencies of the Δ > 15 kb and the point mutation in exon 3 in the Quebec city region were 57.5 and 21.8%, respectively. Finally, in Saguenay‐Lac‐St‐Jean/Cǒte‐Nord, the relative frequency of the Δ > 15 kb only reached 31.5% and the point mutation in exon 3, 59.2%. Thus, on the north shore of the St. Lawrence River, the prevalence of the Δ > 15 kb decreases from west to north‐east, whereas the relative frequency of the mutation in exon 3 appears to increase. These observations provide a better characterization of FH among French‐Canadians of Quebec, a Canadian province with a high prevalence of this inherited disease