ABCMdb

PMID: 19071091

Jiang ZY, Jiang CY, Wang L, Wang JC, Zhang SD, Einarsson C, Eriksson M, Han TQ, Parini P, Eggertsen G
Increased NPC1L1 and ACAT2 expression in the jejunal mucosa from Chinese gallstone patients.
Biochem Biophys Res Commun. 2009 Jan 30;379(1):49-54. Epub 2008 Dec 9., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys The frequency of two SNPs in the ABCG8 gene (Y54C and T400K) was determined by allelic discrimination. Login to comment 7 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys No correlations were observed between patients carrying the different genotypes for Y54C or T400K and their mRNA levels for ABCG5 or ABCG8. Login to comment 55 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Single nucleotide polymorphism (SNP) analysis of the polymorphic sites Y54C and T400K in the ABCG8 gene were determined by allelic discrimination using intestinal cDNA as template. Login to comment 56 ABCG8 p.Tyr54Cys The following sequences were utilized for PCR primers and Taqman probes: Y54C: forward primer: ACA GTG GCC AGC CCA ACA; reverse primer: AGC CAG CTG CTC AAA CCA A. Login to comment 58 ABCG8 p.Thr400Lys T400K: forward primer: GCC TCC CGA GTC CTA CGA A; reverse primer: CGG AAG TCG TTG GAA ATC TGA C. Login to comment 78 ABCG8 p.Asp19His Although two of the polymorphisms, D19H and A632V, frequently are occurring among Caucasian populations [23], they are rare in ethnic Chinese [24]. Login to comment 85 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys for the Y54C and T400K polymorphisms in ABCG8 gene in the GS and GSF patients. Login to comment 86 ABCG8 p.Thr400Lys Previously, T400K had been shown to associate with gallstone disease in Chinese patients [24], but this material was too small to allow a similar evaluation. Login to comment 88 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys The campesterol and sitosterol levels were lower in subjects heterozygous or homozygous for the Y54C or the T400K polymorphism compared to individuals homozygous for the WT allele, but significance was only obtained for campesterol (Table 1, P < 0.05). Login to comment 100 ABCG8 p.Tyr54Cys (C) Comparison between mRNA levels of the genes ABCG5/G8, NPC1L1 and ACAT2 in the individuals of the total material (GS + GSF) with reference to the Y54C polymorphic site in the ABCG8 gene. Login to comment 101 ABCG8 p.Thr400Lys (D) Comparison between mRNA levels of the genes ABCG5/G8, NPC1L1, and ACCAT2 in the individuals of the total material (GS + GSF) with reference to the T400K polymorphic site in the ABCG8 gene. Login to comment 102 ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Table 1 Plasma lipid and plant sterol levels in the total material with reference to the polymorphic sites Y54C and T400K in the ABCG8 gene (means ± SEM). Login to comment 125 ABCG8 p.Asp19His Polymorphisms within the ABCG5 and ABCG8 genes have been reported to associate with gallstone disease, as the frequency of D19H in the latter was higher in German and Chilean patients [23,34]. Login to comment 126 ABCG8 p.Thr400Lys T400K was overrepresented in a Chinese GS patient material [24], and we also concluded that individuals with this SNP showed lower levels of plasma campesterol. Login to comment