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Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
PG. Bronson, D. Chang, T. Bhangale, MF. Seldin, W. Ortmann, RC. Ferreira, E. Urcelay, LF. Pereira, J. Martin, A. Plebani, V. Lougaris, V. Friman, T. Freiberger, J. Litzman, V. Thon, Q. Pan-Hammarström, L. Hammarström, RR. Graham, TW. Behrens,
Language English Country United States
Document type Journal Article, Meta-Analysis
NLK
ProQuest Central
from 2000-01-01 to 1 year ago
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Public Health Database (ProQuest)
from 2000-01-01 to 1 year ago
PubMed
27723758
DOI
10.1038/ng.3675
Knihovny.cz E-resources
- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Genome-Wide Association Study MeSH
- IgA Deficiency genetics MeSH
- Genetic Variation * MeSH
- Gene Regulatory Networks MeSH
- Cohort Studies MeSH
- Lectins, C-Type genetics MeSH
- Humans MeSH
- Monosaccharide Transport Proteins genetics MeSH
- Autophagy-Related Proteins genetics MeSH
- RNA, Long Noncoding genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Meta-Analysis MeSH
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells. Pathway analysis of the meta-analysis results showed striking association with the KEGG pathway for IgA production (pathway P < 0.0001), with 22 of the 30 annotated pathway genes containing at least one variant with P ≤ 0.05 in the IgAD meta-analysis. These data suggest that a complex network of genetic effects, including genes known to influence the biology of IgA production, contributes to IgAD.
Department of Biochemistry School of Medicine University of California Davis Davis California USA
Department of Human Genetics Genentech Inc South San Francisco California USA
Department of Immunology Hospital San Pedro de Alcántara Cáceres Spain
Department of Infectious Diseases University of Gothenburg Gothenburg Sweden
Division of Clinical Immunology and Transfusion Medicine Karolinska Institutet Stockholm Sweden
Instituto de Parasitología y Biomedicina López Neyra CSIC Granada Spain
References provided by Crossref.org
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- $a Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10(-8)) loci and association with a rare IFIH1 variant (p.Ile923Val). Peak new variants (PVT1, P = 4.3 × 10(-11); ATG13-AMBRA1, P = 6.7 × 10(-10); AHI1, P = 8.4 × 10(-10); CLEC16A, P = 1.4 × 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells. Pathway analysis of the meta-analysis results showed striking association with the KEGG pathway for IgA production (pathway P < 0.0001), with 22 of the 30 annotated pathway genes containing at least one variant with P ≤ 0.05 in the IgAD meta-analysis. These data suggest that a complex network of genetic effects, including genes known to influence the biology of IgA production, contributes to IgAD.
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