Genetic polymorphism of sterol transporters in children with future gallstones

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Nissinen , M J , Pitkänen , N , Simonen , P , Gylling , H , Viikari , J , Raitakari , O , Lehtimäki , T , Juonala , M & Pakarinen , M P 2018 , ' Genetic polymorphism of sterol transporters in children with future gallstones ' , Digestive and Liver Disease , vol. 50 , no. 9 , pp. 954-960 . https://doi.org/10.1016/j.dld.2018.04.007

Title: Genetic polymorphism of sterol transporters in children with future gallstones
Author: Nissinen, Markku J.; Pitkänen, Niina; Simonen, Piia; Gylling, Helena; Viikari, Jorma; Raitakari, Olli; Lehtimäki, Terho; Juonala, Markus; Pakarinen, Mikko P.
Contributor: University of Helsinki, University of Helsinki
University of Helsinki, Clinicum
University of Helsinki, Department of Medicine
University of Helsinki, Clinicum
Date: 2018-09
Language: eng
Number of pages: 7
Belongs to series: Digestive and Liver Disease
ISSN: 1590-8658
URI: http://hdl.handle.net/10138/301258
Abstract: Background & aims: Gallstone disease is related to hypersecretion of cholesterol in bile, and low serum phytosterol levels. We examined how genetic polymorphisms of sterol transporters affect childhood cholesterol metabolism trait predicting adult gallstone disease. Patients and methods: In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126). Results: In childhood, phytosterols were lower (9.7%-23.4%) in carriers of risk allele 19H compared to 19D homozygotes. Lowest campesterol/cholesterol tertile consisted of 1.9-times more future gallstone subjects, and 3.7-times more 19H carriers than highest one. Campesterol/cholesterol-ratio was highest in 19D homozygote controls, but similar to 11% lower in gallstone 19D homozygotes and similar to 25% lower among gallstone and control carriers of 19H. Gallstone subjects with alleles CC of rs41279633 and TT of rs217434 of NPC1L1 had similar to 18% lower campesterol/cholesterol-ratio compared to mutation carriers. Conclusions: Risk trait of cholesterol metabolism (low phytosterols) in childhood favouring cholesterol gallstone disease later in adulthood is influenced by risk variant 19H of ABCG8 and obviously also other factors. NPC1L1 variants have minor influence on noncholesterol sterols. (c) 2018 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
Subject: 3121 General medicine, internal medicine and other clinical medicine
Cholesterol
noncholesterol sterols
plant sterols
surrogates of cholesterol absorption
SERUM PLANT STEROLS
SURROGATE MARKERS
INTESTINAL CHOLESTEROL ABSORPTION
METABOLISM
NPC1L1
Plant sterols
DISEASE
LIVER
Surrogates of cholesterol absorption
YOUNG FINNS
PRECURSORS
CARDIOVASCULAR RISK
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