کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1940835 | 1050789 | 2006 | 9 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Gene polymorphisms in the Quebec population: A risk to develop hypertriglyceridemia Gene polymorphisms in the Quebec population: A risk to develop hypertriglyceridemia](/preview/png/1940835.png)
In Eastern Québec, two major lipoprotein lipase (LPL) gene mutations, P207L and G188E, lead to complete LPL deficiency in homozygote subjects and contribute to elevated predisposition to hypertriglyceridemia in heterozygotes. First, we determined the allele frequencies of LPL (D9N, G188E, P207L, D250N, N291S, and S447X), APOE (C112R and C158R), PPARα (L162V), and PPARγ2 (P12A) single nucleotide polymorphisms (SNPs) in a random-based cohort of the metropolitan Québec city area. Second, we compared the LPL X447 allele frequencies observed in the random cohort and in a cohort of LPL P207L deficient patients. In the random cohort, the LPL N9 rare allele exhibited a higher prevalence than previously expected (p = 0.0001). The LPL X447 allele frequency was lower in the patient cohort (Freq: 4.4%) than in the random cohort (Freq: 11.2%) (p = 0.0001). These results reveal the importance of genetic screening for LPL gene mutations D9N and S447X in a population at risk to develop hypertriglyceridemia.
Journal: Biochemical and Biophysical Research Communications - Volume 344, Issue 2, 2 June 2006, Pages 588–596