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High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences
NV. Rivera, M. Ronninger, K. Shchetynsky, A. Franke, MM. Nöthen, J. Müller-Quernheim, S. Schreiber, I. Adrianto, B. Karakaya, CH. van Moorsel, Z. Navratilova, V. Kolek, BA. Rybicki, MC. Iannuzzi, M. Petrek, JC. Grutters, C. Montgomery, A....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
Free Medical Journals
od 1997-07-01 do Před 1 rokem
Freely Accessible Science Journals
od 1997 do Před 1 rokem
ProQuest Central
od 2003-02-01 do 2019-09-15
Open Access Digital Library
od 1998-01-01
Nursing & Allied Health Database (ProQuest)
od 2003-02-01 do 2019-09-15
Health & Medicine (ProQuest)
od 2003-02-01 do 2019-09-15
Public Health Database (ProQuest)
od 2003-02-01 do 2019-09-15
- MeSH
- fenotyp * MeSH
- genetická predispozice k nemoci genetika MeSH
- genomika metody MeSH
- genotyp * MeSH
- lidé středního věku MeSH
- lidé MeSH
- plicní sarkoidóza genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Německo MeSH
- Nizozemsko MeSH
- Spojené státy americké MeSH
- Švédsko MeSH
RATIONALE: Sarcoidosis is a multisystem disease of unknown cause. Löfgren's syndrome (LS) is a characteristic subgroup of sarcoidosis that is associated with a good prognosis in sarcoidosis. However, little is known about its genetic architecture or its broader phenotype, non-LS sarcoidosis. OBJECTIVES: To address the genetic architecture of sarcoidosis phenotypes, LS and non-LS. METHODS: An association study in a white Swedish cohort of 384 LS, 664 non-LS, and 2,086 control subjects, totaling 3,134 subjects using a fine-mapping genotyping platform was conducted. Replication was performed in four independent cohorts, three of white European descent (Germany, n = 4,975; the Netherlands, n = 613; and Czech Republic, n = 521), and one of black African descent (United States, n = 1,657), totaling 7,766 subjects. MEASUREMENTS AND MAIN RESULTS: A total of 727 LS-associated variants expanding throughout the extended major histocompatibility complex (MHC) region and 68 non-LS-associated variants located in the MHC class II region were identified and confirmed. A shared overlap between LS and non-LS defined by 17 variants located in the MHC class II region was found. Outside the MHC region, two LS-associated loci, in ADCY3 and between CSMD1 and MCPH1, were observed and replicated. CONCLUSIONS: Comprehensive and integrative analyses of genetics, transcription, and pathway modeling on LS and non-LS indicates that these sarcoidosis phenotypes have different genetic susceptibility, genomic distributions, and cellular activities, suggesting distinct molecular mechanisms in pathways related to immune response with a common region.
Center of Interstitial Lung Diseases St Antonius Hospital Nieuwegein the Netherlands
Department of Pathological Physiology and
Department of Pneumology University of Freiburg Freiburg Germany
Department of Public Health Sciences Henry Ford Health Systems Detroit Michigan
State University of New York Upstate Medical University Syracuse Syracuse New York
Citace poskytuje Crossref.org
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- $a RATIONALE: Sarcoidosis is a multisystem disease of unknown cause. Löfgren's syndrome (LS) is a characteristic subgroup of sarcoidosis that is associated with a good prognosis in sarcoidosis. However, little is known about its genetic architecture or its broader phenotype, non-LS sarcoidosis. OBJECTIVES: To address the genetic architecture of sarcoidosis phenotypes, LS and non-LS. METHODS: An association study in a white Swedish cohort of 384 LS, 664 non-LS, and 2,086 control subjects, totaling 3,134 subjects using a fine-mapping genotyping platform was conducted. Replication was performed in four independent cohorts, three of white European descent (Germany, n = 4,975; the Netherlands, n = 613; and Czech Republic, n = 521), and one of black African descent (United States, n = 1,657), totaling 7,766 subjects. MEASUREMENTS AND MAIN RESULTS: A total of 727 LS-associated variants expanding throughout the extended major histocompatibility complex (MHC) region and 68 non-LS-associated variants located in the MHC class II region were identified and confirmed. A shared overlap between LS and non-LS defined by 17 variants located in the MHC class II region was found. Outside the MHC region, two LS-associated loci, in ADCY3 and between CSMD1 and MCPH1, were observed and replicated. CONCLUSIONS: Comprehensive and integrative analyses of genetics, transcription, and pathway modeling on LS and non-LS indicates that these sarcoidosis phenotypes have different genetic susceptibility, genomic distributions, and cellular activities, suggesting distinct molecular mechanisms in pathways related to immune response with a common region.
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