Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population - Scorecard - MDSpire

Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population

  • By

  • Aleksandra Mamchur

  • Maria Bruttan

  • Veronika Daniel

  • Daria Kashtanova

  • Elena Zelenova

  • Irina Dzhumaniiazova

  • Mikhail Ivanov

  • Lorena Matkava

  • Olga Blinova

  • Sergey Mitrofanov

  • Liliya Golubnikova

  • Naiana Kumar

  • Ekaterina Maralova

  • Andrey Shingaliev

  • Marat Ezhov

  • Aleksey Meshkov

  • Uliana Chubykina

  • Olga Pogorelova

  • Mariia Tripoten

  • Tatyana Balahonova

  • Alexandra Viskova

  • Madina Komarova

  • Timur Gurtsiev

  • Natalia Gomyranova

  • Yulia Vorobeva

  • Anastasia Hotuleva

  • Maria Kolyaskina

  • Vladimir Yudin

  • Valentin Makarov

  • Anton Keskinov

  • Lyudmila Kuzmina

  • Sergey Boytsov

  • Sergey Yudin

  • Veronika Skvortsova

  • June 2, 2026

  • 0 min

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Clinical Scorecard: Customized Polygenic Analysis of Lipid Metabolism Genetics in the Russian Population

At a Glance

CategoryDetail
ConditionHypercholesterolemia and associated cardiovascular diseases
Key MechanismsGenetic variants affecting lipid metabolism, specifically total cholesterol, LDL-C, and HDL-C levels
Target PopulationRussian population without familial hypercholesterolemia or lipid-regulating agents
Care SettingClinical genetics and cardiovascular risk assessment

Key Highlights

  • Study involved 8,732 participants from the Russian population.
  • Polygenic score models were developed for total cholesterol, LDL-C, and HDL-C.
  • Genetic predictors of lipid levels differed between men and women.
  • Models consider age and BMI for lifelong cardiovascular disease risk assessment.
  • Identified genetic variants linked to lipid levels in specific genes.

Guideline-Based Recommendations

Diagnosis

  • Assess lipid levels and genetic predisposition for hypercholesterolemia.

Management

  • Implement personalized strategies based on polygenic risk scores.

Monitoring & Follow-up

  • Regularly monitor lipid levels and cardiovascular health.

Risks

  • Elevated cholesterol levels increase the risk of atherosclerosis, ischemic heart disease, and myocardial infarction.

Patient & Prescribing Data

Individuals in the Russian population without familial hypercholesterolemia.

Focus on managing modifiable risk factors alongside genetic predisposition.

Clinical Best Practices

  • Utilize whole-genome sequencing for accurate genetic variant identification.
  • Develop ethnicity-specific polygenic risk score models.
  • Incorporate lifestyle factors like BMI in risk assessments.

Related Resources & Content

Original Source(s)

Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population

  • by Aleksandra Mamchur, Maria Bruttan, Veronika Daniel, Daria Kashtanova, Elena Zelenova, Irina Dzhumaniiazova, Mikhail Ivanov, Lorena Matkava, Olga Blinova, Sergey Mitrofanov, Liliya Golubnikova, Naiana Kumar, Ekaterina Maralova, Andrey Shingaliev, Marat Ezhov, Aleksey Meshkov, Uliana Chubykina, Olga Pogorelova, Mariia Tripoten, Tatyana Balahonova, Alexandra Viskova, Madina Komarova, Timur Gurtsiev, Natalia Gomyranova, Yulia Vorobeva, Anastasia Hotuleva, Maria Kolyaskina, Vladimir Yudin, Valentin Makarov, Anton Keskinov, Lyudmila Kuzmina, Sergey Boytsov, Sergey Yudin, Veronika Skvortsova

  • June 2, 2026

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