کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2966191 1178796 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Resequencing the APOE gene reveals that rare mutations are not significant contributory factors in the development of type III hyperlipidemia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Resequencing the APOE gene reveals that rare mutations are not significant contributory factors in the development of type III hyperlipidemia
چکیده انگلیسی

BackgroundAPOE (apolipoprotein E gene) 2/2 genotype and an apolipoprotein B/total cholesterol (ApoB/TC) ratio <0.15 are diagnostic for type III hyperlipidemia. We hypothesized that patients with APOE genotype 2/3 or 2/4 and an ApoB/TC ratio <0.15 may have a mutation in their epsilon 3 or 4 allele, resulting in a type III hyperlipidemia phenotype.ObjectiveWe tested this hypothesis.MethodsThe DNA sequence of all 4 exons and exon/intron boundaries of the APOE (plus 600 bp upstream of exon 1) of 47 patients with APOE 2/3 and 18 patients with APOE 2/4 genotype and an ApoB/TC ratio <0.15 was determined. As controls the APOE sequence of 53 APOE genotype 2/3 and 20 APOE genotype 2/4 probands with ApoB/TC ratio >0.15 was determined. The sequence analysis was extended to include 47 patients with APOE genotype 3/3, 14 with APOE genotype 3/4, and 3 with APOE genotype 4/4 and an ApoB/TC ratio <0.15. Finally, we determined the sequence of the APOE gene in 145 patients with an ApoB/TC ratio >0.15 and who had triglycerides above the 90th percentile for age and sex.ResultsNo deleterious variants in the APOE gene were observed in patients with APOE genotype other than 2/2 and an ApoB/TC ratio <0.15. Only a single probably deleterious variant, K72E, was observed in patients with triglycerides above the 90th percentile.ConclusionsPatients with an ApoB/TC ratio <0.15 do not have an increased likelihood of mutation in the APOE gene, and rare variants in the APOE gene are not important in the development of hypertriglyceridemia.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Clinical Lipidology - Volume 7, Issue 6, November–December 2013, Pages 671–674
نویسندگان
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