Abstract
Niemann Pick Type C1 Like 1 (NPC1L1) protein plays a key role in intestinal and hepatic cholesterol metabolism in humans. Genetic variation in NPC1L1 has been widely studied in recent years. We analyzed NPC1L1 single nucleotide polymorphisms in Chinese gallstone disease patients to investigate their association with gallstone disease. NPC1L1 mRNA expression was also measured in liver biopsies from patients with cholesterol gallstone disease and compared between genotypes. The G allele of the g1679C>G (rs2072183) polymorphism was significantly more prevalent in patients with gallstones compared with gallstone-free subjects. Moreover, patients carrying the G allele had lower hepatic NPC1L1 mRNA expression and higher biliary cholesterol (molar percentages) and cholesterol saturation index. Our study suggests that the G allele of the NPC1L1 polymorphism g1679C>G may be a positive marker of gallstone formation risk.
Highlights
Niemann Pick Type C1 Like 1 (NPC1L1) is a putative protein involved in intestinal cholesterol absorption [1]
We recently reported that hepatic expression of NPC1L1 was reduced in Chinese female patients with gallstone disease [4]
The odds ratio (OR) for an association of the minor allele with gallstone disease was 1.30 for all patients, and was 1.54 (95%CI: 1.19~1.99, P0.05) in female, respectively (S3 Table)
Summary
Niemann Pick Type C1 Like 1 (NPC1L1) is a putative protein involved in intestinal cholesterol absorption [1]. We recently reported that hepatic expression of NPC1L1 was reduced in Chinese female patients with gallstone disease [4]. Another cohort study showed increased expression of NPC1L1 in the jejunal mucosa from Chinese gallstone patients [5]. These data suggest a role for NPC1L1 in promoting gallstone formation by either increased uptake of luminal cholesterol into enterocytes or by decreased re-uptake of biliary cholesterol by hepatocytes. Genetic variants of NPC1L1 are reported to be associated with an altered rate of intestinal cholesterol absorption as measured by the ratio of plant sterol to lathosterol [6, 7], with changes
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