National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per. 10, Bld. 3, 101000 Moscow, Russia.
Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia.
Int J Mol Sci. 2023 Aug 24;24(17):13159. doi: 10.3390/ijms241713159.
Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed. We demonstrated that the diagnostic algorithms of FD, including the diagnostic apoB levels, require correction, taking into account the distribution of apoB levels in the population. At the same time, a triglycerides cutoff ≥ 1.5 mmol/L may be a useful tool in identifying subjects with FD. In this study, a high prevalence of FD was detected: 0.67% (one in 150) based on the ε2ε2 haplotype and triglycerides levels ≥ 1.5 mmol/L. We also analyzed the presence and pathogenicity of variants associated with autosomal dominant FD in a large research sample.
家族性载脂蛋白 B100 缺陷血症（FD）是一种具有高度致动脉粥样硬化性的遗传性脂质代谢紊乱，其实际患病率被低估。近年来，已经开发出了几种生化算法，以便使用现有实验室检测来诊断 FD。FD 诊断标准的实际适用性以及 FD 在俄罗斯的流行情况尚未得到评估。我们证明，FD 的诊断算法，包括载脂蛋白 B 水平的诊断，需要进行校正，以考虑到载脂蛋白 B 水平在人群中的分布。同时，甘油三酯 cutoff 值≥1.5mmol/L 可能是识别 FD 患者的有用工具。在这项研究中，根据 ε2ε2 单倍型和甘油三酯水平≥1.5mmol/L，我们检测到 FD 的高患病率为 0.67%（每 150 人中有 1 人）。我们还在大型研究样本中分析了与常染色体显性 FD 相关的变异的存在和致病性。
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