کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1998604 1065817 2009 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study
چکیده انگلیسی

Background. The small, dense LDL phenotype is associated with an increased cardiovascular disease risk. A genome-wide scan performed on 236 nuclear families of the Quebec Family Study (QFS) revealed a QTL for LDL-peak particle size (LDL-PPD) on the 17q21 region. Three positional candidates were identified in this region according to their implication in the phosphoinositide (PI) cycle: the myotubularin-related protein 4 (MTMR4), the phospholipase C, delta 3 (PLCD3), and the diacylglycerol kinase E (DGKE) genes. Objectives. To test the association between MTMR4, PLCD3, and DGKE gene polymorphisms, LDL-PPD and plasma lipid parameters. Methods. Analyses were performed on 680 subjects of QFS. LDL-PPD was measured by gradient gel electrophoresis on non-denaturating 2–16% polyacrylamide gradient gels. Direct sequencing was performed to identify genetic variations within these genes. Results. The c.-754G>C, c.183G>A, and c.579C>A DGKE SNPs were significantly associated with higher plasma triglyceride levels (p = 0.029, p = 0.008, p = 0.001, respectively). The c.508C>G and c.890T>G MTMR4 polymorphisms were associated with plasma total-cholesterol concentrations (p = 0.02, p = 0.02, respectively), while no association was observed with PLCD3 gene polymorphisms. Conclusion. The c.579C>A DGKE gene polymorphism is associated with plasma triglyceride levels, while MTMR4 SNPs seem to predict variations in plasma cholesterol levels.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 97, Issue 2, June 2009, Pages 149–154
نویسندگان
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