Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.

Olga Timoshchenko, Elena Shakhtshneider, Dinara Ivanoshchuk, Valentina Zorina, Pavel Orlov, Sergey Semaev, Yuliya Ragino

Abstract readObservational Study

PubMed Full text at PMC Publisher

In one paragraph

Observational study in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Olga TimoshchenkoInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0002-6584-2060

Elena ShakhtshneiderInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0001-6108-1025

Dinara IvanoshchukInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0002-0403-545X

Valentina ZorinaInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0002-7846-7933

Pavel OrlovInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0001-9371-2178

Sergey SemaevInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0003-3999-8501

Yuliya RaginoInstitute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), -Branch of ICG SB RAS, 175/1 Borisa Bogatkova Str., Novosibirsk 630089, Russia.ORCID 0000-0002-4936-8362

Funding

The work was completed within the framework of the State Assignment FWNR-2025-0006

6 · The paper itself

Abstract

The aim of the study was to characterize the prevalence of comorbidities and molecular genetic status in patients with familial hypercholesterolemia (FH) and non-familial hypercholesterolemia (non-FH). This cross-sectional observational study included 323 patients. Assessments comprised personal and family histories, physical examination, fasting lipid profiling, and molecular genetic testing. Patients with FH were not characterized by an increased prevalence of type 2 diabetes mellitus. In contrast, the non-FH group demonstrated a pronounced cardiometabolic comorbidity profile with a high prevalence of recurrent chronic pancreatitis. Patients with probable or definite FH had a higher prevalence of coronary heart disease and peripheral atherosclerosis, whereas myocardial infarction (MI) was common across all studied groups. Among patients with definite and probable FH, pathogenetic variants were identified in 78.2% and 71.4%, respectively, predominantly in the

Indexed as

HypercholesterolemiaHyperlipoproteinemia Type IIAdultAgedComorbidityCross-Sectional StudiesFemaleGenetic TestingHumansMaleMiddle AgedPrevalenceReceptors, LDLReceptors, LDLcardiometabolic comorbiditiesDutch Lipid Clinic Networkfamilial hypercholesterolemiagenetic variantsmolecular genetic diagnosis

Identifiers

PMID41683642

DOI10.3390/ijms27031214

PMCPMC12898640

What Socratic holds

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LicenceCC BY

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.