A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when predicting disease risk in individuals from populations other than those used in their derivation. The design bias of workhorse tools used for research, particularly genotyping arrays, contributes to these distortions. To avoid further inequities in health outcomes, the inclusion of diverse populations in research, unbiased genotyping, and methods of bias reduction in PRS are critical.
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http://dx.doi.org/10.1186/s13073-018-0610-x | DOI Listing |
Genome-wide association studies (GWAS) have identified genetic variants robustly associated with asthma. A potential near-term clinical application is to calculate polygenic risk score (PRS) to improve disease risk prediction. The value of PRS, as part of numerous multi-source variables used to define asthma, remains unclear.
View Article and Find Full Text PDFBMC Public Health
January 2025
Department of Endocrinology, China-Japan Friendship Hospital, No.2 Yinghuayuan East Street, Hepingli, Chaoyang District, 100029, Beijing, China.
Background: The prevalence of type 2 diabetes (T2D) and asthma is rising, yet evidence regarding the relationship between T2D and asthma, particularly in the context of genetic predispositions, remains limited.
Methods: This study utilized data from the UK Biobank longitudinal cohort, involving 388,775 participants. A polygenic risk score (PRS) for asthma was derived from genome-wide association studies summary.
Routine use of genetic data in healthcare is much-discussed, yet little is known about its performance in epidemiological models including traditional risk factors. Using severe COVID-19 as an exemplar, we explore the integration of polygenic risk scores (PRS) into disease models alongside sociodemographic and clinical variables. PRS were optimized for 23 clinical variables and related traits previously-associated with severe COVID-19 in up to 450,449 UK Biobank participants, and tested in 9,560 individuals diagnosed in the pre-vaccination era.
View Article and Find Full Text PDFCephalalgia
January 2025
Functional Pharmacology and Neuroscience Unit, Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.
Background: Individuals with autism spectrum disorder (ASD) experience a wide array of neurological, psychiatric and medical comorbidities, yet little attention has been given to the potential link between ASD and migraine, one of the most prevalent neurological disorders worldwide. This study aimed to investigate whether a genetic predisposition for ASD is linked to migraine and its major subtypes, with and without aura. Additionally, potential moderator and mediators of the association between ASD and migraine were explored.
View Article and Find Full Text PDFProstaglandins Other Lipid Mediat
January 2025
Department of Biology, College Of Education For Pure Sciences, University Of Anbar, Ramadi 31001, Anbar, Iraq.
Polycystic ovary syndrome (PCOS) is one of the most common and important polygenic endocrine disorders among women of reproductive-aged. Current treatments are mostly used only to control the signs and symptoms of the disease, while not being able to completely prevent complications. Curcumin is one of the active compounds in turmeric, which is commonly used for a wide range of metabolic and inflammatory diseases.
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