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

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Lipids

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.

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Acknowledgment

Supported by grants from the Romanian National Council of Scientific Research in Universities (CNCSIS 1263/2005 to M.A.), the German Research Council (Deutsche Forschungsgemeinschaft DFG LA 997/3-1 to F.L.), and the University of Bonn, Germany (BONFOR O-107.0083 to F.G.).

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Authors and Affiliations

  1. 3rd Medical Clinic, University Iuliu Hatieganu, Cluj-Napoca, Romania

    Monica Acalovschi, Simona Tirziu & Erica Chiorean

  2. 2nd Medical Clinic, Saarland University Hospital, Homburg, Germany

    Marcin Krawczyk, Frank Grünhage & Frank Lammert

  3. 3rd Medical Clinic, University of Medicine and Pharmacy, Str. Croitorilor No.19-23, 400162, Cluj-Napoca, Romania

    Monica Acalovschi

Authors
  1. Monica Acalovschi
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  2. Simona Tirziu
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  3. Erica Chiorean
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  4. Marcin Krawczyk
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  5. Frank Grünhage
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  6. Frank Lammert
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Correspondence to Monica Acalovschi.

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Acalovschi, M., Tirziu, S., Chiorean, E. et al. Common Variants of ABCB4 and ABCB11 and Plasma Lipid Levels: A Study in Sib Pairs with Gallstones, and Controls. Lipids 44, 521–526 (2009). https://doi.org/10.1007/s11745-009-3300-z

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  • DOI: https://doi.org/10.1007/s11745-009-3300-z

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