Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters
2024

Developing Blood Lipid Risk Scores for Atherosclerosis

Sample size: 2490 publication 10 minutes Evidence: moderate

Author Information

Author(s): Marija Zaicenoka, Alexandra I. Ershova, Anna V. Kiseleva, Anastasia V. Blokhina, Vladimir A. Kutsenko, Evgeniia A. Sotnikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Maria S. Pokrovskaya, Svetlana A. Shalnova, Vasily E. Ramensky, Alexey N. Meshkov, Oxana M. Drapkina

Primary Institution: National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation

Hypothesis

Can polygenic risk scores (PRS) for blood lipids be effectively developed and applied to predict atherosclerosis in the Russian population?

Conclusion

The study shows that fine-tuning PRS using specific methodologies improves their predictive performance for atherosclerosis risk.

Supporting Evidence

  • 56 PRS scales related to four lipid phenotypes were constructed.
  • An additional R2 increase of 2–4% was achieved compared to previous results.
  • PRS for total cholesterol, LDL-C, and triglycerides were positively correlated with atherosclerosis ultrasound parameters.

Takeaway

Researchers created scores to predict heart disease risk based on blood fats, and found that using advanced methods made these scores better.

Methodology

The study used two population samples from Ivanovo and Vologda regions, applying three methods to develop PRS based on GWAS results.

Potential Biases

Potential bias due to the limited transferability of PRS across different populations.

Limitations

The study had a smaller sample size than typically used for PRS development and used a target panel design that may have omitted some variants.

Participant Demographics

Participants were primarily Russian, with a median age of 50 years, and included both males and females.

Statistical Information

P-Value

p<0.001

Confidence Interval

[95% CI, 0.25–0.37]

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.3390/biomedicines12122798

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