Discovery and implications of polygenicity of common diseases

The sequencing of the human genome has allowed the study of the genetic architecture of common diseases: the number of genomic variants that contribute to risk of disease and their joint frequency and effect size distribution. Common diseases are polygenic, with many loci contributing to phenotype,...

Full description

Saved in:
Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2021-09, Vol.373 (6562), p.1468-1473
Main Authors: Visscher, Peter M, Yengo, Loic, Cox, Nancy J, Wray, Naomi R
Format: Article
Language:English
Subjects:
Alleles
Disease - genetics
Environmental factors
Gene expression
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Genomes
Health risks
Humans
Loci
Models, Genetic
Multifactorial Inheritance
Phenotypes
Polymorphism, Single Nucleotide
Rare Diseases - genetics
Risk
Risk assessment
Selection, Genetic
Size distribution
Whole Genome Sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The sequencing of the human genome has allowed the study of the genetic architecture of common diseases: the number of genomic variants that contribute to risk of disease and their joint frequency and effect size distribution. Common diseases are polygenic, with many loci contributing to phenotype, and the cumulative burden of risk alleles determines individual risk in conjunction with environmental factors. Most risk loci occur in noncoding regions of the genome regulating cell- and context-specific gene expression. Although the effect sizes of most risk alleles are small, their cumulative effects in individuals, quantified as a polygenic (risk) score, can identify people at increased risk of disease, thereby facilitating prevention or early intervention.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.abi8206