PMID: 22522591

Many N, Stickel F, Schmitt J, Stieger B, Soyka M, Frei P, Gotze O, Mullhaupt B, Geier A
Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
Mutagenesis. 2012 Sep;27(5):567-72. doi: 10.1093/mutage/ges020. Epub 2012 Apr 19., [PubMed]
Sentences
No. Mutations Sentence Comment
49 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22522591:49:5
status: NEW
view ABCB11 p.Val444Ala details
 G (p.V444A, rs2287622) as well as of NR1I1 polymorphisms forming the bat-haplotype (rs1544410, rs7975232 and rs731236) (27) was performed using standard TaqMan technology. Login to comment 147 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 22522591:147:96
status: NEW
view ABCB11 p.Val444Ala details
 572 Although the present study could not detect a significant genetic influence of the ABCB11 p.V444A polymorphism and the common NR1I1 bAt[CCA]-haplotype on the presence of liver cirrhosis in patients with chronic alcohol abuse, our findings do not preclude a relevant role of bile salts and vitamin D in acute ALD. Login to comment