Schroor Maite M, Mokhtar Fatma B A, Plat Jogchum, Mensink Ronald P
Department of Nutrition and Movement Sciences, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands.
Biomedicines. 2021 Oct 14;9(10):1475. doi: 10.3390/biomedicines9101475.
Single nucleotide polymorphisms (SNPs) have been associated with cholesterol metabolism and may partly explain large inter-individual variability in intestinal cholesterol absorption and endogenous cholesterol synthesis rates. This cross-sectional study therefore examined whether SNPs in genes encoding for proteins involved in intestinal cholesterol absorption ( and ) and endogenous cholesterol synthesis (, , , , , and ) were associated with intestinal cholesterol absorption markers (total cholesterol (TC) standardized campesterol and sitosterol levels), an endogenous cholesterol synthesis marker (TC-standardized lathosterol levels), and serum low-density lipoprotein cholesterol (LDL-C) concentrations in a European cohort. (rs4245786) and the tag SNP (rs4245791) were significantly associated with serum campesterol and/or sitosterol levels. In contrast, (rs217429 and rs217416) were significantly associated with serum lathosterol levels. The tag SNP in (rs12916) and a SNP in (rs12141732) were significantly associated with serum LDL-C concentrations. SNPs in the cholesterol absorption genes were not associated with serum LDL-C concentrations. SNPs in and were not associated with the serum non-cholesterol sterols and LDL-C concentrations. Given the variable efficiency of cholesterol-lowering interventions, the identification of SNPs associated with cholesterol metabolism could be a step forward towards personalized approaches.
单核苷酸多态性（SNPs）与胆固醇代谢相关，可能部分解释个体间肠道胆固醇吸收和内源性胆固醇合成速率的巨大差异。因此，这项横断面研究调查了参与肠道胆固醇吸收（和）及内源性胆固醇合成（、、、、和）的蛋白质编码基因中的SNPs是否与欧洲队列中的肠道胆固醇吸收标志物（总胆固醇（TC）标准化的菜油甾醇和谷甾醇水平）、内源性胆固醇合成标志物（TC标准化的羊毛甾醇水平）以及血清低密度脂蛋白胆固醇（LDL-C）浓度相关。（rs4245786）和标签SNP（rs4245791）与血清菜油甾醇和/或谷甾醇水平显著相关。相反，（rs217429和rs217416）与血清羊毛甾醇水平显著相关。（rs12916）中的标签SNP和（rs12141732）中的一个SNP与血清LDL-C浓度显著相关。胆固醇吸收基因中的SNPs与血清LDL-C浓度无关。和中的SNPs与血清非胆固醇甾醇和LDL-C浓度无关。鉴于降胆固醇干预措施的效果各异，识别与胆固醇代谢相关的SNPs可能是迈向个性化治疗方法的重要一步。
