ABCMdb

PMID: 22681771

Mullenbach R, Weber SN, Krawczyk M, Zimmer V, Sarrazin C, Lammert F, Grunhage F
A frequent variant in the human bile salt export pump gene ABCB11 is associated with hepatitis C virus infection, but not liver stiffness in a German population.
BMC Gastroenterol. 2012 Jun 8;12:63., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCB11 p.Val444Ala A frequent variant in the coding region, c.1331 T > C, leading to the amino acid exchange p.V444A, has been associated with altered serum bile salt levels in healthy individuals and predisposes homozygous carriers of the [C] allele for obstetric cholestasis. Login to comment 26 ABCB11 p.Val444Ala Previously a common, non-conservative polymorphism c.1331 T >C (p.V444A) in the hepatobiliary bile salt transporter ABCB11 (also known as bile salt export pump, BSEP) was identified as a risk factor for cholestatic liver diseases, in particular drug-induced cholestasis [16] and intrahepatic cholestasis of pregnancy [17,18]. Login to comment 76 ABCB11 p.Val444Ala Figure 1 illustrates that scatterplot analysis is indicative of a higher frequency of individuals with more Table 2 Genotyping results for ABCB11 c.1331 T > C from patients and controls ABCB11 p.V444A (c.1331 T > C) alleles/ genotypes Counts (frequencies) of alleles/genotypes Cases (N = 649) Controls (N = 413) [T] 511 (0.39) 359 (0.43) [C] 787 (0.61) 467 (0.57) [TT] 97 (0.15) 82 (0.20) [TC] 317 (0.49) 195 (0.47) [CC] 235 (0.36) 136 (0.33) Tests for association chi2 P Allele frequency difference 3.50 0.061 Armitage`s trend test 3.49 0.062 OR statistics OR (95% CI) P [C] ࢒ [T] 1.18 (0.99 - 1.41) 0.061 [CC] ࢒ [TT] 1.46 (1.02 - 2.10) 0.040 [CC + CT] ࢒ [TT] 1.41 (1.02 - 1.95) 0.037 Patients with HCV infections are regarded as cases. Login to comment