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Last Posted: Feb 07, 2023
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15 years of GWAS discovery: Realizing the promise.
Abdellaoui Abdel et al. American journal of human genetics 2023 1

It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine.

Diet modulates genetic effects on longevity.
et al. Nature genetics 2023 1

Why some individuals live longer than others is of major interest across a range of scientific disciplines, from evolutionary biology to human health. Evolutionary theory tells us that lifespan-reducing alleles should be purged from the gene pool1, yet decades of genome-wide association studies (GWAS) and model organism studies have shown that such alleles persist. Here, we address one potential explanation for this conundrum, the idea that alleles that regulate lifespan do so only in certain contexts (known as ‘genotype-by-environment’ (GxE) effects).

DNA methylation provides molecular links underlying complex traits
Nature Genetics, January 2, 2023

We profiled human DNA methylation for 987 GTEx samples across nine tissues and characterized how genetic regulation of the methylome, compared with the transcriptome, contributes to GWAS phenotypes. This resource contributes to our understanding of molecular regulatory mechanisms in human tissues and their effects on complex traits.

Genetic futurism.
et al. Nature genetics 2022 12 (12) 1757

Large-scale genotyping and phenotyping efforts, including biobanks, have revolutionized our understanding of the genetic architecture of human traits and diseases. Years of ever-larger genome-wide association studies (GWAS) have produced a catalog of genetic variants that contribute to complex traits. A corollary of this research has been the development of personalized polygenic scores (PGS) or polygenic risk scores (PRS).

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.