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. 2016 Jan 22;11(1):e0147562.
doi: 10.1371/journal.pone.0147562. eCollection 2016.

The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients

Jian Wu  1   2 , Wei Cui  3 , Qu Cai  2 , Jian Fei  2 , Sheng-Dao Zhang  2 , Tian-Quan Han  2 , Hai Hu  1 , Zhao-Yan Jiang  1
Affiliations

The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients

Jian Wu et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Comparison of mRNA expression of hepatic ABCG5, ABCG8 and NPC1L1 genes among genotypes of NPC1L1 gene polymorphisms.
(A) g-762T>C polymorphism and (B) g1679C>G polymorphism. ‘a’ vs ‘b’: P<0.01 by ANOVA, post-hoc LSD analysis.
See this image and copyright information in PMC

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