Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population - Report - 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 Report: Customized Polygenic Analysis of Lipid Metabolism Genetics

Overview

This study investigates the genetic architecture of lipid metabolism in the Russian population, identifying key genetic variants associated with cholesterol levels. The findings support the development of personalized polygenic score models for assessing cardiovascular disease risk.

Background

Elevated cholesterol levels are a significant risk factor for cardiovascular diseases, including atherosclerosis and ischemic heart disease. Understanding the genetic factors influencing lipid metabolism can enhance risk assessment and management strategies. This study focuses on the Russian population, addressing the need for ethnicity-specific models in polygenic risk assessment.

Data Highlights

MeasurementSample SizeAssociated Genes
Total Cholesterol8,732HMGCR, APOE, etc.
LDL-C8,732HMGCR, LDLR, etc.
HDL-C8,732LPL, CETP, etc.

Key Findings

  • Identified genetic variants associated with total cholesterol and LDL-C primarily in the HMGCR and APOE genes.
  • HDL-C levels were linked to variants in LPL and CETP genes.
  • Men and women exhibited differences in genetic predictors for cholesterol levels.
  • Developed polygenic score models that incorporate age and BMI for cardiovascular risk assessment.
  • Study sample included 8,732 individuals without familial hypercholesterolemia or lipid-regulating agents.

Clinical Implications

The findings emphasize the importance of personalized genetic profiling in assessing cardiovascular disease risk. Clinicians should consider integrating polygenic risk scores into routine evaluations to enhance prevention and management strategies for dyslipidemia.

Conclusion

This research provides valuable insights into the genetic determinants of lipid metabolism in the Russian population, paving the way for personalized approaches in cardiovascular risk assessment.

Related Resources & Content

  1. American Journal of Epidemiology, 2023 -- Exploring the Links Between Lipidomics and Lipoprotein Considerations in Epidemiological Studies
  2. The Journal of Clinical Endocrinology & Metabolism, 2023 -- The Role of LDL-C and TC in Modulating Cardiovascular Risk Associated with PNPLA3 Inhibition
  3. The Journal of Clinical Endocrinology & Metabolism, 2023 -- Uncommon LMNA Variants Contribute to the Development of Polycystic Ovary Syndrome in Two Distinct Patient Groups
  4. Guideline on the Management of Dyslipidemia - Professional Heart Daily | American Heart Association
  5. The Journal of Clinical Endocrinology & Metabolism — A Comparative Analysis of Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome Patients
  6. Guideline on the Management of Dyslipidemia - Professional Heart Daily | American Heart Association
  7. Bempedoic Acid and Cardiovascular Outcomes in Statin-Intolerant Patients | New England Journal of Medicine
  8. The breadth and impact of the Global Lipids Genetics Consortium - PMC

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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