Lipids

, Volume 44, Issue 6, pp 521–526

Common Variants of ABCB4 and ABCB11 and Plasma Lipid Levels: A Study in Sib Pairs with Gallstones, and Controls

Authors

    • 3rd Medical ClinicUniversity Iuliu Hatieganu
    • 3rd Medical ClinicUniversity of Medicine and Pharmacy
  • Simona Tirziu
    • 3rd Medical ClinicUniversity Iuliu Hatieganu
  • Erica Chiorean
    • 3rd Medical ClinicUniversity Iuliu Hatieganu
  • Marcin Krawczyk
    • 2nd Medical ClinicSaarland University Hospital
  • Frank Grünhage
    • 2nd Medical ClinicSaarland University Hospital
  • Frank Lammert
    • 2nd Medical ClinicSaarland University Hospital
Original Article

DOI: 10.1007/s11745-009-3300-z

Cite this article as:
Acalovschi, M., Tirziu, S., Chiorean, E. et al. Lipids (2009) 44: 521. doi:10.1007/s11745-009-3300-z

Abstract

Most epidemiological surveys have confirmed the association of low HDL-cholesterol and high triglyceride levels with cholesterol gallstones. Our objective was to analyze the relationship between plasma lipid levels and common polymorphisms of ABCB11 (encoding the bile salt export pump, BSEP) and ABCB4 (encoding the phospholipid transporter into bile, MDR3) genes. Plasma lipids were measured in 108 index patients of sib pairs with gallstones and in 260 controls. Using PCR-based assays with 5′-nuclease and fluorescence detection (TaqMan), the ABCB11 coding SNP p.A444V and four haplotype-tagging SNPs covering the ABCB4 gene (c.504C > T, c.711T > A, p.R652G, rs31653 in intron 26) were genotyped. Plasma lipids were compared in carriers of the common versus rare allele of these polymorphisms using Student’s t test and Pearson’s correlation. BMI and triglyceride levels were higher and HDL-cholesterol levels were lower in affected siblings than in controls. Among cases, triglyceride and cholesterol levels were higher in carriers of the common versus rare (hetero/homozygous carriers) allele of the SNPs p.A444V of ABCB11 and C.504C > T of ABCB4. HDL-cholesterol was lower in carriers of the common allele of rs31653. In controls, significant differences of cholesterol and HDL-cholesterol levels were found in carriers of ABCB4 polymorphisms. Our results do not support the hypothesis of a link between ABCB4 and ABCB11 polymorphisms, lithogenic dyslipidemia, and gallstone risk.

Keywords

Serum triglyceridesHDL cholesterolGallstonesCandidate genesPolymorphismsABCB4ABCB11

Copyright information

© AOCS 2009