Phenome-wide association studies as a research tool for identifying new pathogenetic links
https://doi.org/10.15829/1728-8800-2024-4275
EDN: XMWWLS
Abstract
The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic variants and phenotypes, in particular, phenome-wide association studies (PheWAS). It was originally designed to test one or more genetic variants associated with a disease or clinical symptom for associations with other phenotypes. PheWAS can identify novel genetic and phenotypic associations, differentiate true pleiotropy and clinical comorbidity, identify new disease subtypes, and identify new drug targets. Future efforts to integrate broad and robust phenotypic data collection and improve PheWAS tools will provide a valuable resource for more efficient genome-phenome analysis, leading to new discoveries in personalized medicine.
About the Authors
N. A. Mashkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Moscow
A. I. Ershova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Moscow
O. V. Kopylova
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Moscow
O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation
Russian Federation
Moscow
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Supplementary files
What is already known about the subject?
- Phenome-wide association studies (PheWAS) have become an established and actively developing approach to identify associations between genetic sequence variants and a wide range of phenotypic traits.
- Today, PheWAS is considered one of the most valuable methodological approaches in studying pathogenetic relationships.
What might this study add?
- The methodology and main stages of conducting phenome-wide association studies are presented.
- There are following scientific and practical problems that can be solved using PheWAS: replication of previously identified associations; identification of new genotype-phenotype associations and pleiotropy of nucleotide sequence variants; study of new pathogenetic relationships and comorbidity; search for new approaches to treatment and prevention; study of drug safety.
Review
For citations:
Mashkina N.A., Ershova A.I., Kopylova O.V., Drapkina O.M. Phenome-wide association studies as a research tool for identifying new pathogenetic links. Cardiovascular Therapy and Prevention. 2024;23(12):4275. (In Russ.) https://doi.org/10.15829/1728-8800-2024-4275. EDN: XMWWLS
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