The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients.
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...
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doaj-6e8785a530d74605a0bf73cdcbccd67d2020-11-24T21:52:03ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-01111e014756210.1371/journal.pone.0147562The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients.Jian WuWei CuiQu CaiJian FeiSheng-Dao ZhangTian-Quan HanHai HuZhao-Yan JiangNiemann 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.http://europepmc.org/articles/PMC4723254?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jian Wu Wei Cui Qu Cai Jian Fei Sheng-Dao Zhang Tian-Quan Han Hai Hu Zhao-Yan Jiang |
spellingShingle |
Jian Wu Wei Cui Qu Cai Jian Fei Sheng-Dao Zhang Tian-Quan Han Hai Hu Zhao-Yan Jiang The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. PLoS ONE |
author_facet |
Jian Wu Wei Cui Qu Cai Jian Fei Sheng-Dao Zhang Tian-Quan Han Hai Hu Zhao-Yan Jiang |
author_sort |
Jian Wu |
title |
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. |
title_short |
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. |
title_full |
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. |
title_fullStr |
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. |
title_full_unstemmed |
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. |
title_sort |
npc1l1 polymorphism 1679c>g is associated with gallstone disease in chinese patients. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2016-01-01 |
description |
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. |
url |
http://europepmc.org/articles/PMC4723254?pdf=render |
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