دورية أكاديمية
أعرض في EDS

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

التفاصيل البيبلوغرافية
العنوان: Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
المؤلفون: Bentham J; Division of Genetics and Molecular Medicine, King's College London, UK., Morris DL; Division of Genetics and Molecular Medicine, King's College London, UK., Graham DSC; Division of Genetics and Molecular Medicine, King's College London, UK., Pinder CL; Division of Genetics and Molecular Medicine, King's College London, UK., Tombleson P; Division of Genetics and Molecular Medicine, King's College London, UK., Behrens TW; Genentech, Inc., South San Francisco, California, USA., Martín J; Instituto de Parasitología y Biomedicina López Neyra, CSIC, Granada, Spain., Fairfax BP; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Knight JC; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Chen L; Division of Genetics and Molecular Medicine, King's College London, UK., Replogle J; Harvard Medical School, Boston, Massachusetts, USA., Syvänen AC; Department of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Rönnblom L; Department of Medical Sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden., Graham RR; Genentech, Inc., South San Francisco, California, USA., Wither JE; Toronto Western Research Institute (TWRI), University Health Network, Toronto, Ontario, Canada., Rioux JD; Université de Montréal, Montreal, Quebec, Canada.; Montreal Heart Institute, Montreal, Quebec, Canada., Alarcón-Riquelme ME; Centro de Genómica e Investigación Oncológica (GENYO), Pfizer-Universidad de Granada-Junta de Andalucía, Granada, Spain., Vyse TJ; Division of Genetics and Molecular Medicine, King's College London, UK.; Division of Immunology, Infection and Inflammatory Disease, King's College London, UK.
المصدر: Nature genetics [Nat Genet] 2015 Dec; Vol. 47 (12), pp. 1457-1464. Date of Electronic Publication: 2015 Oct 26.
نوع المنشور: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Nature Pub. Co., c1992-
مواضيع طبية MeSH: Gene Expression Regulation* , Genetic Association Studies*, Adaptive Immunity/*genetics , Genetic Markers/*genetics , Immunity, Innate/*genetics , Lupus Erythematosus, Systemic/*genetics , Lupus Erythematosus, Systemic/*pathology, Case-Control Studies ; Genetic Loci ; Genetic Predisposition to Disease ; Humans ; Lupus Erythematosus, Systemic/immunology ; Meta-Analysis as Topic ; Polymorphism, Single Nucleotide/genetics ; Risk Factors
مستخلص: Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new GWAS, a meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including ten new associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n = 16) of transcription factors among SLE susceptibility genes. This finding supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE.
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معلومات مُعتمدة: 085492 United Kingdom WT_ Wellcome Trust; R01 CA133996 United States CA NCI NIH HHS; R37HL039693 United States HL NHLBI NIH HHS; 19289 United Kingdom ARC_ Arthritis Research UK; U01AG009740 United States AG NIA NIH HHS; R37 HL039693 United States HL NHLBI NIH HHS; P50 CA093459 United States CA NCI NIH HHS; U01HG004446 United States HG NHGRI NIH HHS; RC4 AG039029 United States AG NIA NIH HHS; RC4AG039029 United States AG NIA NIH HHS; 5R01ES011740 United States ES NIEHS NIH HHS; U01 HG004446 United States HG NHGRI NIH HHS; P50 CA097007 United States CA NCI NIH HHS; U01 AG009740 United States AG NIA NIH HHS; 3P50CA093459 United States CA NCI NIH HHS; United States HHMI Howard Hughes Medical Institute; 5P50CA097007 United States CA NCI NIH HHS; R01 ES011740 United States ES NIEHS NIH HHS; 19289 United Kingdom VAC_ Versus Arthritis; 5R01CA133996 United States CA NCI NIH HHS; 051276 United Kingdom WT_ Wellcome Trust; RC2 AG036495 United States AG NIA NIH HHS; United Kingdom WT_ Wellcome Trust; 94825 Canada CAPMC CIHR; RC2AG036495 United States AG NIA NIH HHS
فهرسة مساهمة: Indexing Agency: NLM Local ID #: EMS65418.
سلسلة جزيئية: GEO GSE56035
المشرفين على المادة: 0 (Genetic Markers)
تواريخ الأحداث: Date Created: 20151027 Date Completed: 20160621 Latest Revision: 20240610
رمز التحديث: 20240610
مُعرف محوري في PubMed: PMC4668589
DOI: 10.1038/ng.3434
PMID: 26502338
قاعدة البيانات: MEDLINE
الوصف
تدمد:1546-1718
DOI:10.1038/ng.3434