What is it about?
The study focuses on developing a globally applicable genetic risk score for body mass index (BMI), considering individuals from various ethnic backgrounds. Traditionally, such scores (polygenic risk scores or PRS) were limited in their effectiveness because they largely used data from European populations. This research, part of the International Hundred K+ Cohorts Consortium, aimed to create a more inclusive PRS by incorporating data from non-European populations. The process involved developing, training, and testing a PRS model at the Center for Applied Genomics of The Children's Hospital of Philadelphia, using BMI data from the GIANT consortium. The model was then shared with various international sites, where it was applied to local cohorts.
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Why is it important?
This study addresses a critical gap in medical genetics: the underrepresentation of non-European populations in genetic research, particularly in the development of polygenic risk scores. By including diverse populations, the study ensures that the PRS for BMI is applicable globally. This is crucial for predicting and managing health conditions like obesity, which have a strong genetic component and vary across ethnicities.
Perspectives
The development of a trans-ethnic PRS for BMI could lead to better prediction and management strategies for obesity and related health conditions. Addressing the diversity gap in genetic research also has ethical implications. It promotes equity in healthcare research and can help reduce health disparities among different ethnic groups.
Dr. Hui-Qi Qu
Children's Hospital of Philadelphia
Read the Original
This page is a summary of: Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study, January 2023, Cold Spring Harbor Laboratory Press,
DOI: 10.1101/2023.01.17.23284675.
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