- 作者：Monica Acalovschi ; Anca Ciocan ; Ofelia Mostean ; Simona Tirziu ; Erica Chiorean ; Hildegard Keppeler ; Ramin Schirin-Sokhan ; Frank Lammert
- 关键词：Polymorphism ; ABCG5 ; ABCG8 ; Cholesterol ; HDL-cholesterol ; Triglycerides ; Gallstones ; Genetic determinants
- 刊名：European Journal of Internal Medicine
- 出版年：2006
- 出版时间：November 2006
- 年：2006
- 卷：17
- 期：7
- 页码：490-494
- 全文大小：148 K
The role of ABCG5 and ABCG8 genes in the determination of plasma lipid levels is currently under intensive investigation. The aim of this study was to evaluate plasma lipid levels in sibling pairs with gallstones and to assess their correlation with common gene polymorphisms in the ABCG5/ABCG8 genes.
Methods
Plasma levels of cholesterol, HDL-cholesterol, and triglycerides were measured in 68 patients belonging to 34 sibling pairs with gallstones (affected sibling pairs, mean age 56.3 years) and in 68 gallstone carriers with stone-free siblings (age/gender-matched controls in a ratio of 2:1 with the index patients of the study group). Four and one non-synonymous sequence variants in ABCG8 and ABCG5 genes, respectively, were determined in the affected sibling pairs, employing allelic discrimination with 5′ nuclease assays.
Results
Plasma triglyceride levels were higher and HDL-cholesterol levels lower in the index patients than in controls. Plasma lipid levels were correlated in the members of the affected sibling pairs. Triglyceride levels were higher in carriers of the common alleles for ABCG5 Q604E andABCG8 D19H sequence variants, and HDL-cholesterol was lower in carriers of the common alleles for ABCG5 Q604E than in carriers of the rare alleles.
Conclusions
The significantly different plasma lipid levels in siblings with gallstones versus controls, as well as the correlation of plasma lipids in affected sibling pairs, confirm the genetic influence in gallstone disease. Polymorphisms in ABCG5/ABCG8 genes might contribute to the genetic variation in plasma lipid levels and in cholesterol saturation of the bile.