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Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
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Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults.

Maria Kafyra1, Ioanna Panagiota Kalafati1,2, Maria Dimitriou1,3

  • 1Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.

Journal of Personalized Medicine
|February 25, 2023
PubMed
Summary

This study developed a new method to create polygenic risk scores (PRS) for body mass index (BMI) in Greeks. The resulting genetic risk score effectively predicts BMI, aiding obesity prevention efforts.

Keywords:
Greek adultsbioinformaticsbody mass index (BMI)polygenic risk score (PRS)

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Area of Science:

  • Genetics and Public Health
  • Obesity Research
  • Bioinformatics

Background:

  • Polygenic risk scores (PRS) are valuable for personalized obesity prevention.
  • Developing population-specific PRS is crucial for accurate risk prediction.
  • Existing PRS may not fully capture genetic influences in diverse populations like Greeks.

Purpose of the Study:

  • To introduce a novel methodology for polygenic risk score (PRS) derivation.
  • To present the first PRS for body mass index (BMI) specifically for the Greek population.
  • To enhance the reliability and applicability of PRS in clinical settings for obesity management.

Main Methods:

  • A novel pipeline was developed for PRS extraction, involving iterative dataset splitting and validation.
  • Genetic data from three cohorts of Greek adults (N=2185) were analyzed.
  • Summary statistics and PRS were calculated, aggregated, and stabilized for robustness.

Main Results:

  • A 343-single nucleotide polymorphism PRS for BMI was generated in the Greek population.
  • The PRS explained a significant portion of BMI variance, with R² = 0.3241 (p < 4 × 10⁻¹⁹³).
  • Associated variants showed links to traits like blood cell counts, gut microbiome, and lifestyle factors.

Conclusions:

  • The proposed methodology successfully created the first BMI-specific PRS for Greek adults.
  • This approach facilitates the development and integration of reliable PRS into healthcare for obesity prevention.
  • The findings highlight the potential of genetic risk assessment in personalized health strategies.