-
Je něco špatně v tomto záznamu ?
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,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, metaanalýza
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
PubMed
27723758
DOI
10.1038/ng.3675
Knihovny.cz E-zdroje
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- celogenomová asociační studie MeSH
- deficience IgA genetika MeSH
- genetická variace * MeSH
- genové regulační sítě MeSH
- kohortové studie MeSH
- lektiny typu C genetika MeSH
- lidé MeSH
- proteiny přenášející monosacharidy genetika MeSH
- proteiny spojené s autofagií genetika MeSH
- RNA dlouhá nekódující genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza 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
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc17031342
- 003
- CZ-PrNML
- 005
- 20171031111005.0
- 007
- ta
- 008
- 171025s2016 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1038/ng.3675 $2 doi
- 035 __
- $a (PubMed)27723758
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Bronson, Paola G $u Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
- 245 10
- $a Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency / $c 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,
- 520 9_
- $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.
- 650 _2
- $a adaptorové proteiny signální transdukční $x genetika $7 D048868
- 650 _2
- $a proteiny spojené s autofagií $x genetika $7 D000071183
- 650 _2
- $a kohortové studie $7 D015331
- 650 _2
- $a genové regulační sítě $7 D053263
- 650 12
- $a genetická variace $7 D014644
- 650 _2
- $a celogenomová asociační studie $7 D055106
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a deficience IgA $x genetika $7 D017098
- 650 _2
- $a lektiny typu C $x genetika $7 D037181
- 650 _2
- $a proteiny přenášející monosacharidy $x genetika $7 D009004
- 650 _2
- $a RNA dlouhá nekódující $x genetika $7 D062085
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a metaanalýza $7 D017418
- 700 1_
- $a Chang, Diana $u Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
- 700 1_
- $a Bhangale, Tushar $u Department of Bioinformatics and Computational Biology, Genentech, Inc., South San Francisco, California, USA.
- 700 1_
- $a Seldin, Michael F $u Department of Biochemistry, School of Medicine, University of California, Davis, Davis, California, USA.
- 700 1_
- $a Ortmann, Ward $u Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
- 700 1_
- $a Ferreira, Ricardo C $u Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Cambridge, UK.
- 700 1_
- $a Urcelay, Elena $u Department of Immunology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, IdISSC, Madrid, Spain.
- 700 1_
- $a Pereira, Luis Fernández $u Department of Immunology, Hospital San Pedro de Alcántara, Cáceres, Spain.
- 700 1_
- $a Martin, Javier $u Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
- 700 1_
- $a Plebani, Alessandro $u Pediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy. Institute for Molecular Medicine, A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
- 700 1_
- $a Lougaris, Vassilios $u Pediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy. Institute for Molecular Medicine, A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
- 700 1_
- $a Friman, Vanda $u Department of Infectious Diseases, University of Gothenburg, Gothenburg, Sweden.
- 700 1_
- $a Freiberger, Tomáš $u Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
- 700 1_
- $a Litzman, Jiri $u Department of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, St. Anne's University Hospital, Brno, Czech Republic.
- 700 1_
- $a Thon, Vojtech $u Department of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, St. Anne's University Hospital, Brno, Czech Republic. Research Centre for Toxic Compounds in the Environment, Faculty of Science, Masaryk University, Brno, Czech Republic.
- 700 1_
- $a Pan-Hammarström, Qiang $u Division of Clinical Immunology and Transfusion Medicine, Karolinska Institutet, Stockholm, Sweden.
- 700 1_
- $a Hammarström, Lennart $u Division of Clinical Immunology and Transfusion Medicine, Karolinska Institutet, Stockholm, Sweden.
- 700 1_
- $a Graham, Robert R $u Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
- 700 1_
- $a Behrens, Timothy W $u Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
- 773 0_
- $w MED00003458 $t Nature genetics $x 1546-1718 $g Roč. 48, č. 11 (2016), s. 1425-1429
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/27723758 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20171025 $b ABA008
- 991 __
- $a 20171031111055 $b ABA008
- 999 __
- $a ok $b bmc $g 1254935 $s 992369
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2016 $b 48 $c 11 $d 1425-1429 $e 20161010 $i 1546-1718 $m Nature genetics $n Nat Genet $x MED00003458
- LZP __
- $a Pubmed-20171025
