دورية أكاديمية
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
| العنوان: | No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis. |
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| المؤلفون: | Cénit MC; Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain. mccenit@ipb.csic.es, Simeón CP, Fonollosa V, Espinosa G, Beltrán E, Sáez-Comet L, Vicente-Rabaneda E, García-Hernández FJ, Martínez-Estupiñán L, Rodríguez-Carballeira M, Hernández V, de la Peña PG, Fernández-Castro M, Narváez FJ, Pros A, Gallego M, Ríos-Fernández R, Camps MT, Fernández-Nebro A, Egurbide MV, Carreira P, González-Gay MA, Martín J |
| مؤلفون مشاركون: | Spanish Scleroderma Group |
| المصدر: | Tissue antigens [Tissue Antigens] 2012 Sep; Vol. 80 (3), pp. 254-8. Date of Electronic Publication: 2012 Jun 29. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Blackwell Country of Publication: England NLM ID: 0331072 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0039 (Electronic) Linking ISSN: 00012815 NLM ISO Abbreviation: Tissue Antigens Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2015>: [Oxford] : Wiley Blackwell Original Publication: 1971- : Copenhagen, Munksgaard. |
| مواضيع طبية MeSH: | Genetic Association Studies* , Genetic Predisposition to Disease* , Scleroderma, Systemic*/genetics, Cytokine Receptor gp130/*genetics , Polymorphism, Single Nucleotide/*genetics , Receptors, Interleukin-6/*genetics, Case-Control Studies ; Gene Frequency/genetics ; Humans |
| مستخلص: | Systemic sclerosis (SSc) is a complex autoimmune disease which genetic component has not been yet completely understood. IL6 encodes a cytokine with a crucial role in the development of autoimmunity and fibrosis and its actions mainly are controlled by IL-6 receptor (IL-6R). We aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes. A Spanish cohort including 1013 SSc patients and 1375 controls was genotyped using the TaqMan® allelic discrimination technology. SSc patients were subdivided according to the major clinical forms, autoantibody status and presence of fibrotic lung affection. Our data showed no influence of the selected variants in global SSc susceptibility (rs8192284: P=0.67, odds ratios (OR)=0.98; rs2228044: P=0.99, OR=1.00). Similarly, the clinical/autoantibody subphenotype analyses did not yielded significant results. Our data suggest that the analyzed polymorphisms may not play a significant role in the SSc susceptibility. (© 2012 John Wiley & Sons A/S.) |
| فهرسة مساهمة: | Investigator: L Trapiella; MF González-Escribano; C Tolosa; F Díaz-González; JL Andreu; JL Callejas-Rubio; J Román-Ivorra; J Sánchez-Román; MJ Castillo; I Castellví; FJ López-Longo; L Rodríguez-Rodríguez; B Fernández-Gutiérrez; MÁ Aguirre; I Gómez-Gracia; MC Freire; I Vaqueiro; N Navarrete; RG Portales |
| المشرفين على المادة: | 0 (IL6R protein, human) 0 (IL6ST protein, human) 0 (Receptors, Interleukin-6) 133483-10-0 (Cytokine Receptor gp130) |
| تواريخ الأحداث: | Date Created: 20120630 Date Completed: 20121212 Latest Revision: 20120813 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1111/j.1399-0039.2012.01915.x |
| PMID: | 22742541 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1399-0039 |
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| DOI: | 10.1111/j.1399-0039.2012.01915.x |