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Volume 2017 (2017), Article ID 9375818, 6 pages
Research Article

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

1Department of Faculty Therapy, Phthisiology, Infectious Diseases and Epidemiology, Institute of Medicine, Petrozavodsk State University, 33 Lenin Str., Petrozavodsk, Republic of Karelia 185910, Russia
2Department of Molecular Genetics, Institute of Experimental Medicine, 12 Pavlov Street, St. Petersburg 197376, Russia
3St. Petersburg State University, Universitetskaya Nab. 7/9, St. Petersburg 199034, Russia
4Department of Analysis of Competitive Systems, National Research Nuclear University “MEPhI”, Kashirskoye Shosse 31, Moscow 115409, Russia
5Department of Biochemistry, St. Petersburg State University, Universitetskaya Nab. 7/9, St. Petersburg 199034, Russia

Correspondence should be addressed to T. Yu. Kuznetsova

Received 30 November 2016; Revised 31 January 2017; Accepted 12 February 2017; Published 28 March 2017

Academic Editor: Hayato Tada

Copyright © 2017 V. A. Korneva et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. In 52 of these patients (50.9%) genetic analysis was performed, revealing pathogenic mutations of the low density lipoprotein (LDL) receptor gene in 22 patients. We report here five mutations of the LDL receptor gene found in the Karelian FH sample for the first time. The detection rate of mutations in definite FH patients was 42.3%. Two groups of patients with a definite diagnosis of FH according to the Dutch Lipid Clinic Network criteria were compared: the first group had putatively functionally important LDL receptor gene mutations, while in the second group LDL receptor gene mutations were excluded by single-strand conformation polymorphism analysis. Total and LDL cholesterol levels were higher in the group with LDL receptor mutations compared to the mutation-free population. The frequency of mutations in patients with LDL cholesterol > 6.5 mmol/L was more than 3 times higher than that in patients with LDL < 6.5 mmol/L. Total and LDL cholesterol levels and the frequency of coronary heart disease and myocardial infarction were higher in the group with definite FH compared to groups with probable and possible FH. Cholesterol figures in FH patients of different age and sex from the Karelian population were comparable.