ABCMdb

PMID: 24498041

Jiang ZY, Cai Q, Chen EZ
Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis.
PLoS One. 2014 Jan 30;9(1):e87200. doi: 10.1371/journal.pone.0087200. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Genotypes of Y54C and T400K in the ABCG8 gene were determined by allelic discrimination using either genomic DNA or hepatic cDNA as template by Taqman assays. Login to comment 5 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys In the genotype model, the overall association between genotype with gallstone was significant for D19H (OR = 2.43, 95%CI: 2.23-2.64, P,0.001), and for Y54C (OR = 1.36, 95%CI: 1.01-1.83, P = 0.044), or T400K (OR = 1.17, 95%CI: 0.96-1.43. Login to comment 7 ABCG8 p.Asp19His ABCG8 p.Thr400Lys In allele model, minor alleles of D19H polymorphism (allele D: OR = 2.25, 95%CI: 2.10-2.42, P,0.001) and of T400K polymorphism (allele K: OR = 1.18, 95%CI: 1.061.31, P,0.001) were related with an increased risk of gallstone disease. Login to comment 8 ABCG8 p.Tyr54Cys However, minor allele of Y54C polymorphism (allele Y, OR = 1.08, 95%CI: 0.96-1.21, P = 0.146) was not related with gallstone disease. Login to comment 11 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys However, no association of T400K and Y54C polymorphism with hepatic ABCG8/G5 mRNA expression or biliary lipids composition was found. Login to comment 12 ABCG8 p.Asp19His Conclusions: Our study showed strong association of D19H polymorphism with gallstone disease. Login to comment 13 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys T400K and Y54C polymorphism, though to a less extent, may also relate with gallstone disease. Login to comment 32 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys The most studied loci are D19H, T400K and Y54C. Login to comment 37 ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys ABCG8 p.Tyr54Cys The aims of our study are: 1) to evaluate the association between polymorphisms at D19H, T400K and Y54C and gallstone disease using meta-analysis; 2) to compare the hepatic ABCG5/G8 mRNA expression and biliary lipids composition in patients with different genotypes of T400K and Y54C. Methods Literature Search Publication were searched via public database PubMed (http:// www.ncbi.nlm.nih. Login to comment