Polymorphisms of the Niemann-Pick C1-like 1 gene in a Japanese population.

ABSTRACT: The Niemann-Pick C1 like 1 (NPC1L1) protein is a polytopic transmembrane protein responsible for dietary cholesterol absorption. Genetic variation in the NPC1L1 gene affects cholesterol absorption and serum cholesterol levels. However, NCP1L1 genotypes have not previously been invesigated. In this study, genotyping of the NPC1L1 gene was examined in healthy individuals as well as patients with hepatitis C virus (HCV) and inflammatory bowel disease (IBD). A total of 541 individuals were enrolled in the study, including 80 patients with HCV hepatitis, 205 with ulcerative colitis (UC) and 127 with Crohn's disease (CD). Genotyping was performed using TaqMan^® SNP assays. Minor allelic frequencies of the 17345C>G (rs2072183) and 19031G>A (rs4720470) SNPs were foun

SUBMITTER: Osaki R 

PROVIDER: S-EPMC3956618 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature