Genome-wide association studies: utility and limitations for research in physiology.

ABSTRACT: Physiological systems are subject to interindividual variation encoded by genetics. Genome-wide association studies (GWAS) operate by surveying thousands of genetic variants from a substantial number of individuals and assessing their association to a trait of interest, be it a physiological variable, a molecular phenotype (e.g. gene expression), or even a disease or condition. Through a myriad of methods, GWAS downstream analyses then explore the functional consequences of each variant and attempt to ascertain a causal relationship to the phenotype of interest, as well as to delve into its links to other traits. This type of investigation allows mechanistic insights into physiological functions, pathological disturbances and shared biological processes between traits (i.e. pleiotropy). An

SUBMITTER: Pereira Ciochetti N 

PROVIDER: S-EPMC10527550 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature