Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus
Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus
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DOI：
10.1001/jama.2015.1206
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发表时间：
2015-03-10
影响因子：
120.7
通讯作者：
Hovingh, G. Kees
中科院分区：
文献类型：
--
作者：
Besseling, Joost;Kastelein, John J. P.;Hovingh, G. Kees
家族性高胆固醇血症的特征是外周组织（包括肝脏和胰腺）胆固醇摄取受损。相反，他汀类药物增加细胞胆固醇摄取，并与2型糖尿病风险增加有关。我们假设跨膜胆固醇转运与2型糖尿病的发生有关。目的评估2型糖尿病患病率与家族性高胆固醇血症之间的关系。所有个体的横断面研究（n = 63 320）在1994年至2014年期间，在荷兰国家筛查项目中接受了家族性高胆固醇血症的DNA检测。家族性高胆固醇血症突变的非遗传性是基于文献或实验室功能测试。低密度脂蛋白（LDL）受体突变被认为比载脂蛋白B基因（APOB）突变更严重，主要结果与指标2型糖尿病患病率结果家族性高胆固醇血症患者中2型糖尿病患病率为1.75（n = 440/25137）与未患病亲属（n = 1119/38183）的2.93%（P
IMPORTANCE Familial hypercholesterolemia is characterized by impaired uptake of cholesterol in peripheral tissues, including the liver and the pancreas. In contrast, statins increase the cellular cholesterol uptake and are associated with increased risk for type 2 diabetes mellitus. We hypothesize that transmembrane cholesterol transport is linked to the development of type 2 diabetes.OBJECTIVE To assess the association between type 2 diabetes prevalence and familial hypercholesterolemia.DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study in all individuals (n = 63 320) who underwent DNA testing for familial hypercholesterolemia in the national Dutch screening program between 1994 and 2014.EXPOSURES Deleteriousness and nondeleteriousness of familial hypercholesterolemia mutations were based on literature or laboratory function testing. Low-density lipoprotein (LDL) receptor mutations were considered more severe than apolipoprotein B gene (APOB) mutations, and receptor-negative LDL receptor mutations were considered more severe than receptor-deficient mutations.MAIN OUTCOMES AND MEASURES Prevalence of type 2 diabetes.RESULTS The prevalence of type 2 diabetes was 1.75% in familial hypercholesterolemia patients (n = 440/25 137) vs 2.93% in unaffected relatives (n = 1119/38 183) (P