Association between Familial Hypercholesterolemia and Serum Levels of Cholesterol Synthesis and Absorption Markers: The CACHE Study FH Analysis

家族性高胆固醇血症 内科学 胆固醇 医学 内分泌学 低密度脂蛋白胆固醇
作者
Kota Matsuki,Mariko Harada‐Shiba,Mika Hori,Masatsune Ogura,Yasuyuki Akiyama,Hisako Fujii,Yutaka Ishibashi,Tatsuro Ishida,Yasushi Ishigaki,Daijiro Kabata,Yasuki Kihara,Kazuhiko Kotani,Satoshi Kurisu,Daisuke Masuda,Tetsuya Matoba,Takeshi Matsumura,Kensaku Mori,Tomoko Nakagami,Masamitsu Nakazato,Satsuki Taniuchi,Hiroaki Ueno,Shizuya Yamashita,Hiroshi Yoshida,Haruhiko Yoshida,Shōji Tanaka
出处
期刊:Journal of Atherosclerosis and Thrombosis [Japan Atherosclerosis Society]
卷期号:30 (9): 1152-1164 被引量:2
标识
DOI:10.5551/jat.63899
摘要

Serum levels of cholesterol absorption and synthesis markers are known to be associated with cardiovascular risk. Familial hypercholesterolemia (FH) is a well-known inherited disorder presenting elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) levels and premature coronary disease. In this study, we aim to examine the differences in terms of serum markers of cholesterol metabolism between FH and non-FH individuals and to examine their associations with serum lipid levels.In this study, we utilized data on serum markers of cholesterol metabolism, namely, lathosterol (Latho, synthesis marker), campesterol (Campe, absorption marker), and sitosterol (Sito, absorption marker) measured by gas chromatography of the CACHE consortium, which comprised of 13 research groups in Japan. Clinical data were compiled using REDCap system. Among the 2944 individuals in the CACHE population, we selected individuals without lipid-lowering medications and hemodialysis patients for this CACHE study FH analysis. Multivariable adjustment was performed to assess the associations.In this study, we analyzed data from 51 FH patients and 1924 non-FH individuals. After adjustment for possible confounders, the FH group was shown to have significantly higher Campe and Sito concentrations and insignificantly higher Latho concentrations than the non-FH group. These marker concentrations showed nonlinear associations with TC in the FH group. Campe/Latho and Sito/Latho ratios were significantly higher in the FH group than in the non-FH group.FH group had significantly elevated serum Campe and Sito concentrations and insignificantly elevated Latho concentrations; thus, intestinal cholesterol absorption relative to hepatic cholesterol synthesis was suggested to be elevated in patients with FH. Serum Latho, Campe, and Sito concentrations showed nonlinear associations with TC in the FH group.
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