Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults

Autor: Maria Kafyra, Ioanna Panagiota Kalafati, Maria Dimitriou, Effimia Grigoriou, Alexandros Kokkinos, Loukianos Rallidis, Genovefa Kolovou, Georgios Trovas, Eirini Marouli, Panos Deloukas, Panagiotis Moulos, George V. Dedoussis
Rok vydání: 2023
Předmět:
Zdroj: Journal of Personalized Medicine
Volume 13
Issue 2
Pages: 327
ISSN: 2075-4426
DOI: 10.3390/jpm13020327
Popis: Quantifying the role of genetics via construction of polygenic risk scores (PRSs) is deemed a resourceful tool to enable and promote effective obesity prevention strategies. The present paper proposes a novel methodology for PRS extraction and presents the first PRS for body mass index (BMI) in a Greek population. A novel pipeline for PRS derivation was used to analyze genetic data from a unified database of three cohorts of Greek adults. The pipeline spans various steps of the process, from iterative dataset splitting to training and test partitions, calculation of summary statistics and PRS extraction, up to PRS aggregation and stabilization, achieving higher evaluation metrics. Using data from 2185 participants, implementation of the pipeline enabled consecutive repetitions in splitting training and testing samples and resulted in a 343-single nucleotide polymorphism PRS yielding an R2 = 0.3241 (beta = 1.011, p-value = 4 × 10−193) for BMI. PRS-included variants displayed a variety of associations with known traits (i.e., blood cell count, gut microbiome, lifestyle parameters). The proposed methodology led to creation of the first-ever PRS for BMI in Greek adults and aims at promoting a facilitating approach to reliable PRS development and integration in healthcare practice.
Databáze: OpenAIRE
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