کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6116609 | 1216349 | 2016 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review
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کلمات کلیدی
T1DPromiscuous gene expressionmTECsAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyalopecia areataAPECEDTSHRAITDhptPGEAADRheumatoid arthritis - آرتریتروماتوئیدautoimmune thyroid disease - بیماری تیروئید autoimmuneGraves’ disease - بیماری گریوسautoimmune regulator - تنظیم کننده autoimmunemutation - جهشautoimmunity - خودایمنیType 1 diabetes - دیابت نوع۱Medullary thymic epithelial cells - سلول های اپیتلیال سمیوم مدولارGenome-wide association study - مطالعه مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومtra - میانAIRE - هواHypoparathyroidism - هیپوپاراتیروئیدیسمPolymorphism - پلی مورفیسمSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتیدThyroid stimulating hormone receptor - گیرنده هورمون تحریک کننده تیروئید
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
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چکیده انگلیسی
Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD. A case-control association study using 29 variants and conducted in 150 GD patients and 200 controls did not detect any significant association. This result is not exceptional: a systematic review of the literature, including GWAS, on the association of AIRE variants with organ specific autoimmune diseases did not show clear associations; similarly heterozygous recessive mutations are not associated to non-Mendelian autoimmunity. Dominant negative mutations of AIRE are associated to autoimmunity but as mild forms of APECED rather than to non-Mendelian organ specific autoimmunity. The lack of association of common AIRE polymorphisms with polygenic autoimmune diseases is counterintuitive as many other genes less relevant for immunological tolerance have been found to be associated. These findings give rise to the intriguing possibility that evolution has excluded functionally modifying polymorphisms in AIRE.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Human Immunology - Volume 77, Issue 8, August 2016, Pages 643-651
Journal: Human Immunology - Volume 77, Issue 8, August 2016, Pages 643-651
نویسندگان
Roger Colobran, Mireia Giménez-Barcons, Ana MarÃn-Sánchez, Eduard Porta-Pardo, Ricardo Pujol-Borrell,