GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.
GWAS
IgA nephropathy
glomerular disease
glomerulonephritis
human genetics
kidney genomics series
membranous nephropathy
nephrotic syndrome
steroid sensitive nephrotic syndrome
Journal
Clinical journal of the American Society of Nephrology : CJASN
ISSN: 1555-905X
Titre abrégé: Clin J Am Soc Nephrol
Pays: United States
ID NLM: 101271570
Informations de publication
Date de publication:
08 03 2021
08 03 2021
Historique:
pubmed:
19
7
2020
medline:
4
1
2022
entrez:
19
7
2020
Statut:
ppublish
Résumé
Over the past decade, genome-wide association studies (GWAS) have emerged as a powerful tool to understand the genetic basis of complex traits in humans. The GWAS approach has been successfully applied to primary glomerular disorders, providing numerous novel insights into the genetic architecture of IgA nephropathy, membranous nephropathy, and steroid-sensitive nephrotic syndrome. IgA nephropathy appears to have a highly complex polygenic architecture, with nearly 20 genome-wide significant loci of small-to-moderate effects discovered to date. In contrast, the genetic susceptibility to membranous nephropathy and steroid-sensitive nephrotic syndrome appears to be driven by a small number of large-effect loci. The MHC locus on chromosome 6p21 is strongly associated with genetic susceptibility to all major types of immune-mediated glomerulopathies. However, a distinct set of classical HLA alleles is associated with each individual disease type, pinpointing to specific immune mechanisms underlying each of these conditions. Additional insights from the discovery of non-HLA risk loci reinforced the role of innate and adaptive immunity in the pathogenesis of these disorders, and highlighted important susceptibility overlaps between glomerular and other autoimmune and inflammatory conditions. Despite these initial successes, much larger GWAS and sequencing studies are still needed for each individual glomerular disease type. Increased power will be critical to comprehensively test for genetic effects across the full spectrum of allelic frequencies, to detect gene-gene and gene-environment interactions, and to potentially improve the performance of polygenic risk predictors. Moreover, the existing studies are limited mostly to European and East Asian populations, stressing the urgency to expand genetic discovery efforts to more diverse populations worldwide.
Identifiants
pubmed: 32680915
pii: 01277230-202103000-00020
doi: 10.2215/CJN.14031119
pmc: PMC8011010
doi:
Substances chimiques
Steroids
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
458-466Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK105124
Pays : United States
Organisme : NIDDK NIH HHS
ID : UH3 DK114926
Pays : United States
Organisme : NIDDK NIH HHS
ID : UG3 DK114926
Pays : United States
Organisme : NIDDK NIH HHS
ID : RC2 DK116690
Pays : United States
Organisme : NIDDK NIH HHS
ID : T35 DK093430
Pays : United States
Informations de copyright
Copyright © 2021 by the American Society of Nephrology.
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