Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study

Author:

Blokhina Anastasia V.1ORCID,Ershova Alexandra I.1,Kiseleva Anna V.1ORCID,Sotnikova Evgeniia A.1,Zharikova Anastasia A.12,Zaicenoka Marija3ORCID,Vyatkin Yuri V.14,Ramensky Vasily E.12ORCID,Kutsenko Vladimir A.15ORCID,Shalnova Svetlana A.1,Meshkov Alexey N.1678ORCID,Drapkina Oxana M.1ORCID

Affiliation:

1. National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per. 10, Bld. 3, 101000 Moscow, Russia

2. Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia

3. Phystech School of Biological and Medical Physics, Moscow Institute of Physics and Technology, Institutskiy per. 9, 141701 Dolgoprudny, Russia

4. Department of Natural Sciences, Novosibirsk State University, 1, Pirogova Str., 630090 Novosibirsk, Russia

5. Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia

6. National Medical Research Center for Cardiology, 3–ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia

7. Research Centre for Medical Genetics, 1 Moskvorechye St, 115522 Moscow, Russia

8. Department of General and Medical Genetics, Pirogov Russian National Research Medical University, 1 Ostrovityanova st., 117997 Moscow, Russia

Abstract

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 APOE variants associated with autosomal dominant FD in a large research sample.

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

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