Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population
| العنوان: | Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population |
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| المؤلفون: | Satoshi Ito, Shigeto Tohma, Hiroshi Hashimoto, Naoyuki Tsuchiya, Taichi Hayashi, Makio Kusaoi, Takayuki Sumida, Aya Kawasaki, Hiroshi Furukawa, Isao Matsumoto, Yoshinari Takasaki, Yuya Kondo |
| المصدر: | Lupus. 21:890-895 |
| بيانات النشر: | SAGE Publications, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Interferon Regulatory Factor-7, Single-nucleotide polymorphism, Exon, Asian People, Japan, Rheumatology, immune system diseases, Humans, Lupus Erythematosus, Systemic, SNP, Medicine, Allele, skin and connective tissue diseases, Alleles, Chi-Square Distribution, Polymorphism, Genetic, biology, business.industry, Exons, Sequence Analysis, DNA, Odds ratio, Introns, Case-Control Studies, Immunology, biology.protein, IRF7, Antibody, RING Finger Domains, business, Interferon regulatory factors |
| الوصف: | Interferon regulatory factor 7 ( IRF7) has an essential role in the production of type I interferon. Although recent studies detected association of a single nucleotide polymorphism (SNP) rs4963128 in PHD and ring finger domains 1 ( PHRF1) /KIAA1542, located closely to IRF7, and IRF7 rs1131665 (glutamine (Gln) 412 arginine (Arg)) with systemic lupus erythematosus (SLE), causal variants have not been established. In this study, we resequenced exons and introns of IRF7 to screen for all common polymorphisms, and examined whether they were associated with SLE in 416 Japanese patients with SLE and 505 healthy controls. We also tested whether the association of PHRF1 rs4963128 with SLE was replicated in a Japanese population. None of the IRF7 polymorphisms was associated with SLE. PHRF1 rs4963128T was not significantly associated with occurrence of SLE either; however, this allele was significantly increased in SLE with anti-Sm antibodies (6.8%) as compared with healthy controls (3.1%, P = 0.014, odds ratio [OR] 2.31) and SLE without anti-Sm antibodies (3.3%, P =0.041, OR 2.12). This allele was also increased in SLE with renal disorder (5.1%) as compared with those without renal disorder (2.4%, P = 0.047, OR 2.17). These results confirmed recently reported association of PHRF1 rs4963128T with anti-Sm antibody positive SLE in African-American populations, and supported the role of PHRF1-IRF7 region in the genetics of SLE. |
| وصف الملف: | application/pdf |
| تدمد: | 1477-0962 0961-2033 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f66869f1bdcc9001bb046d7a43bb205Test https://doi.org/10.1177/0961203312439333Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1f66869f1bdcc9001bb046d7a43bb205 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14770962 09612033 |
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