Common Variants of ABCB4 and ABCB11 and Plasma Lipid Levels: A Study in Sib Pairs with Gallstones, and Controls
| Autor: | Monica Acalovschi, Frank Grünhage, Frank Lammert, Marcin Krawczyk, Simona Tirziu, Erica Chiorean |
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| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Candidate gene ATP Binding Cassette Transporter Subfamily B Genotype Single-nucleotide polymorphism Gallstones Biology Polymerase Chain Reaction Biochemistry chemistry.chemical_compound Internal medicine medicine Humans Allele ABCB11 ATP Binding Cassette Transporter Subfamily B Member 11 Alleles Genetics Polymorphism Genetic Triglyceride Cholesterol Siblings Organic Chemistry Genetic Variation Cell Biology Middle Aged medicine.disease Lipids Endocrinology chemistry ATP-Binding Cassette Transporters Female lipids (amino acids peptides and proteins) Dyslipidemia |
| Zdroj: | Lipids. 44:521-526 |
| ISSN: | 1558-9307 0024-4201 |
| DOI: | 10.1007/s11745-009-3300-z |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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