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Autor
Ahram, Dina F 1 Ariceta, Gema 1 Bagga, Arvind 1 Barry, Alexandra 1 Bodria, Monica 1 Caridi, Gianluca 1 Cheong, Hae 1 Colucci, Manuela 1 Debiec, Hanna 1 Dossier, Claire 1 Drozynska-Duklas, Magdalena 1 Fiaccadori, Enrico 1 Gesualdo, Loreto 1 Gharavi, Ali 1 Ghiggeri, Gian Marco 1 Giordano, Mario 1 Gupta, Yask 1 Hildebrandt, Friedhelm 1 Hogan, Julien 1 Horinouchi, Tomoko 1
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Pracoviště
AP HP Pediatric Nephrology Department... 1 Center for Data Sciences Brigham and ... 1 Centre for Genetics and Genomics Vers... 1 Croatian Academy of Medical Sciences ... 1 Department of Advanced Pediatric Medi... 1 Department of Biochemistry and Molecu... 1 Department of Biomedical Informatics ... 1 Department of Clinical Sciences and C... 1 Department of Human Genetics Graduate... 1 Department of Medical and Surgical Sp... 1 Department of Medicine Boston Childre... 1 Department of Nephrology Centre Hospi... 1 Department of Nephrology Dialysis and... 1 Department of Nephrology Medicine and... 1 Department of Nephrology and Renal Tr... 1 Department of Pediatric Division of P... 1 Department of Pediatric Nephrology Am... 1 Department of Pediatric Nephrology Di... 1 Department of Pediatric Nephrology UC... 1 Department of Pediatric Nephrology Un... 1
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Autor
Ahram, Dina F 1 Ariceta, Gema 1 Bagga, Arvind 1 Barry, Alexandra 1 Bodria, Monica 1 Caridi, Gianluca 1 Cheong, Hae 1 Colucci, Manuela 1 Debiec, Hanna 1 Dossier, Claire 1 Drozynska-Duklas, Magdalena 1 Fiaccadori, Enrico 1 Gesualdo, Loreto 1 Gharavi, Ali 1 Ghiggeri, Gian Marco 1 Giordano, Mario 1 Gupta, Yask 1 Hildebrandt, Friedhelm 1 Hogan, Julien 1 Horinouchi, Tomoko 1
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Pracoviště
AP HP Pediatric Nephrology Department... 1 Center for Data Sciences Brigham and ... 1 Centre for Genetics and Genomics Vers... 1 Croatian Academy of Medical Sciences ... 1 Department of Advanced Pediatric Medi... 1 Department of Biochemistry and Molecu... 1 Department of Biomedical Informatics ... 1 Department of Clinical Sciences and C... 1 Department of Human Genetics Graduate... 1 Department of Medical and Surgical Sp... 1 Department of Medicine Boston Childre... 1 Department of Nephrology Centre Hospi... 1 Department of Nephrology Dialysis and... 1 Department of Nephrology Medicine and... 1 Department of Nephrology and Renal Tr... 1 Department of Pediatric Division of P... 1 Department of Pediatric Nephrology Am... 1 Department of Pediatric Nephrology Di... 1 Department of Pediatric Nephrology UC... 1 Department of Pediatric Nephrology Un... 1
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- Barry, Alexandra
- McNulty, Michelle T
- Jia, Xiaoyuan
- Gupta, Yask
- Debiec, Hanna
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Luo, Yang
Autor Luo, Yang ORCID Kennedy Institute of Rheumatology, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7FY, United Kingdom Center for Data Sciences, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Divisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
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Nagano, China
Autor Nagano, China ORCID Division of Nephrology, Boston Children's Hospital, Boston, MA, USA Kidney Disease Initiative & Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
- Horinouchi, Tomoko
- Jung, Seulgi
- Colucci, Manuela
Free Medical Journals od 2010
Nature Open Access od 2010-12-01
PubMed Central od 2012
Europe PubMed Central od 2012
ProQuest Central od 2010-01-01
Open Access Digital Library od 2015-01-01
Open Access Digital Library od 2015-01-01
Medline Complete (EBSCOhost) od 2012-11-01
Health & Medicine (ProQuest) od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources od 2010
PubMed
37120605
DOI
10.1038/s41467-023-37985-w
Knihovny.cz E-zdroje
Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations-eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 driving the HLA Class II risk locus. Non-HLA loci colocalize with eQTLs of monocytes and numerous T-cell subsets in independent datasets. Colocalization with kidney eQTLs is lacking but overlap with kidney cell open chromatin suggests an uncharacterized disease mechanism in kidney cells. A polygenic risk score (PRS) associates with earlier disease onset. Altogether, these discoveries expand our knowledge of pSSNS genetic architecture across populations and provide cell-specific insights into its molecular drivers. Evaluating these associations in additional cohorts will refine our understanding of population specificity, heterogeneity, and clinical and molecular associations.
- MeSH
- celogenomová asociační studie * MeSH
- dítě MeSH
- genetická predispozice k nemoci MeSH
- haplotypy MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- nefrotický syndrom * genetika MeSH
- rizikové faktory MeSH
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- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
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