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

PloS One
Jian WuZhao-yan Jiang

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.

References

Oct 1, 1987·European Journal of Clinical Investigation·Y A Kesäniemi, T A Miettinen
Feb 21, 2004·Science·Scott W AltmannMichael P Graziano
Sep 30, 2004·The Journal of Laboratory and Clinical Medicine·Dieter JüngstSven Fischer
Jan 27, 2005·The Journal of Biological Chemistry·Joanna P DaviesYiannis A Ioannou
Jun 2, 2005·Proceedings of the National Academy of Sciences of the United States of America·Margarita Garcia-CalvoNancy A Thornberry
Jan 13, 2006·The Journal of Biological Chemistry·Liqing YuLawrence L Rudel
Feb 2, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jonathan C CohenHelen H Hobbs
Jul 18, 2006·Lancet·Piero PortincasaGiuseppe Palasciano
Jun 16, 2007·The Journal of Clinical Investigation·Ryan E TemelLiqing Yu
Apr 30, 2008·Gastroenterology·Helen H WangDavid Q-H Wang
Dec 17, 2008·Biochemical and Biophysical Research Communications·Zhao-Yan JiangGösta Eggertsen
Sep 15, 2009·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·B MartínF Civeira
Sep 16, 2009·Journal of Lipid Research·Eliana PoliseckiUNKNOWN Prospective Study of Pravastatin in the Elderly at Risk (PROSPER) Investigators
Feb 11, 2010·Lipids in Health and Disease·Wei CuiTian-Quan Han
Apr 10, 2010·Journal of Atherosclerosis and Thrombosis·Tomomi MaedaTamio Teramoto
Jun 1, 2012·Lipids in Health and Disease·Lin MiaoWei-Xiong Lin
Nov 17, 2012·World Journal of Gastroenterology : WJG·Assaf SteinFred M Konikoff
May 28, 2014·Journal of Clinical Pharmacy and Therapeutics·Y KashiwabaraT Yamamoto
Apr 7, 2015·European Heart Journal·Bo Kobberø LauridsenAnne Tybjærg-Hansen
Jun 4, 2015·The New England Journal of Medicine·Christopher P CannonUNKNOWN IMPROVE-IT Investigators
Sep 1, 2015·Journal of the American College of Cardiology·Brian A Ference, Raju Penumetcha

❮ Previous
Next ❯

Citations

Apr 11, 2018·European Journal of Clinical Investigation·Charlotte RebholzFrank Lammert
Jul 18, 2019·The Journal of International Medical Research·Zhenxing HuangZuojie Luo
Feb 23, 2019·Expert Review of Gastroenterology & Hepatology·Agostino Di CiaulaPiero Portincasa
Sep 23, 2021·American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions·François SchieleCharalambos Vlachopoulos
Oct 5, 2021·Clinical and Experimental Pharmacology & Physiology·Siqing MaWei Zhang

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
dissection
genotyping
PCR
biopsy

Software Mentioned

Sequence Detection System
SPSS
IMPROVE
SHEsis

Related Concepts

Related Feeds

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.

Related Papers

Journal of the American College of Cardiology
Bo Kobberø LauridsenAnne Tybjærg-Hansen
Journal of the American College of Cardiology
Brian A Ference, Raju Penumetcha
Kinderkrankenschwester : Organ der Sektion Kinderkrankenpflege
Sabine Fornfeist
© 2022 Meta ULC. All rights reserved