ABCMdb

PMID: 16891356

Wasmuth HE, Glantz A, Keppeler H, Simon E, Bartz C, Rath W, Mattsson LA, Marschall HU, Lammert F
Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.
Gut. 2007 Feb;56(2):265-70. Epub 2006 Aug 4., [PubMed]

Sentences

No. Mutations Sentence Comment

285 ABCB4 p.Arg652Gly In the study by Pauli-Magnus et al,13 the intron 5 deletion was detected in one patient with ICP and two controls, indicating that this polymorphism is not ICP specific, but study participants were not matched for age, parity or geographical residence.13 Although we observed markedly different allele and genotype frequencies for the SNP c.1954ARG in our ICP cases and controls, it has been assumed that the resulting missense mutation (R652G) is a neutral polymorphism that occurs with similar frequencies in cases and controls.12 17 29 39 However, in contrast with a French study,12 in our Swedish patients and in patients from Switzerland,13 ICP seemed to be more prevalent among carriers of arginine at codon 652, and sequence comparisons of ABCB4 genes identifies that the glycine residue is conserved in other species such as rat and hamster. Login to comment