Search for molecular markers in patients with familial hypercholesterolemia in Chuvash population

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Familial hypercholesterolemia (FH) is one of the most common hereditary diseases. Genetic testing for FH allows make profiling patients depending on the type of enzyme system defect and prescribe personalized therapy for them.

The aim: to search for molecular markers of FH in patients from Chuvashia.

Material and methods. In Republican cardiology dispensary of the Ministry of Healthcare of the Chuvash Republic (Cheboksary), a search for mutation variants of genes associated with the development of genetically determined hypercholesterolemias, as well as with other hereditary diseases with similar phenotypic manifestations, was performed in 12 patients with probable and definite FH (according to the criteria of the Dutch Lipid Clinic Scale, DLCNC).

Results. Molecular markers of FH were detected in 33.3% (n = 4) of patients. Mutations of LDLR and PCSK9 genes in a heterozygous state were identified. Variants of nucleotide sequence in LDLR gene (Chr19: 11224317, NM_000527.5: c.T1465A: p.Tyr489Asn); (Chr19:11217240, rs879254652, NM_000527.5:c.695 1G>T); (Chr19:11218138, rs879254708, NM_000527.5:c.C888A:p.Cys296Ter), in PCSK9 gene (Chr1:55523127, rs137852912, NM_174936.4:c.G1120A:p.Asp374Asn) were found in the examined samples.

Conclusion. A genetic study concerning FH aspect was performed in patients of the Chuvash population for the first time. Of 12 patients in the testing group, 4 had confirmed molecular markers of the disease, and 3 had the most common cause of FH (mutations in LDLR gene), which causes 85–90% of cases of this disease. Current study adds to the knowledge about the spectrum of variants causing FH in Russia and allows not only to confirm the diagnosis in the examined person, but also to make a cascade screening of his relatives for the purpose of early diagnosis of the disease.

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作者简介

Larisa Tarasova

I.N. Ulyanov Chuvash State University; Institute for Advanced Medical Studies of the Ministry of Healthcare of the Chuvash Republic; Republican Clinical Hospital of the Ministry of Healthcare of the Chuvash Republic

编辑信件的主要联系方式.
Email: tlarisagast18@mail.ru
ORCID iD: 0000-0003-1496-0689
SPIN 代码: 4125-7935

MD, Dr. Sci. (Medicine), head of the Department of hospital therapy, professor of the Department of public health and healthcare

俄罗斯联邦, Cheboksary; Cheboksary; Cheboksary

Liana Porfiryeva

I.N. Ulyanov Chuvash State University; Republican Cardiology Dispensary of the Ministry of Healthcare of the Chuvash Republic

Email: krasnova-liana@mail.ru
ORCID iD: 0009-0009-0256-9704

MD, postgraduate student of the Department of faculty and hospital therapy, cardiologist at the Department of cardiology No. 4

俄罗斯联邦, Cheboksary; Cheboksary

Alexandra Dubova

I.N. Ulyanov Chuvash State University; Republican Cardiology Dispensary of the Ministry of Healthcare of the Chuvash Republic

Email: dubova-sasha@mail.ru
ORCID iD: 0000-0002-2788-8762
SPIN 代码: 7335-0820

MD, PhD (Medicine), associate professor of the Department of hospital therapy, deputy chief physician for medical affairs

俄罗斯联邦, Cheboksary; Cheboksary

Nadezhda Kucherova

I.N. Ulyanov Chuvash State University; Republican Cardiology Dispensary of the Ministry of Healthcare of the Chuvash Republic

Email: nadezda_kan@mail.ru
ORCID iD: 0000-0002-9500-3719

MD, postgraduate student of the Department of hospital therapy, cardiologist at the Counselling Outpatient Clinic

俄罗斯联邦, Cheboksary; Cheboksary

Olga Dimitrieva

I.N. Ulyanov Chuvash State University; Republican Cardiology Dispensary of the Ministry of Healthcare of the Chuvash Republic

Email: salgarii@mail.ru
ORCID iD: 0000-0002-7771-6141
SPIN 代码: 7570-5680

MD, PhD (Medicine), associate professor of the Department of hospital therapy, cardiologist

俄罗斯联邦, Cheboksary; Cheboksary

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2. Fig. 1. Tuberous xanthoma on the extensor surface of the right elbow of the observed patient M.

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3. Fig. 2. Xanthelasm of the eyelid of the observed patient N.

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