کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6117182 | 1217170 | 2014 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: A case-control study
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کلمات کلیدی
ERAPTNFHuman leukocyte antigen - آنتی ژن لوسکسی انسانHLA - آنتیژن گلبول سفید انسانیAnkylosing spondylitis - اسپوندیلیت انکیلوزانATP-binding cassette transporter - حمل کننده کاسه اتصال ATPTAP - ضربه زدنtumor necrosis factor - فاکتور نکروز تومورMHC - مجموعه سازگاری بافتی اصلیmajor histocompatibility complex - مجموعه سازگاری بافتی اصلی
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: A case-control study Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: A case-control study](/preview/png/6117182.png)
چکیده انگلیسی
Ankylosing spondylitis (AS) and familial Mediterranean fever (FMF) are a common autoimmune disease and a classic autoinflammatory disease, respectively. Mediterranean fever (MEFV) encodes the pyrin protein and is the causal disease gene in FMF. This protein is an important regulator of innate immunity and may play a key role in the development of AS. To identify the mutations in the B30.2 domain of pyrin and to uncover the relationships between these mutations and AS risk in the Chinese Han population, we extracted genomic DNA from the peripheral blood of 200 AS patients and 200 matched controls and performed polymerase chain reactions (PCRs) and direct sequencing on those samples. Statistical analysis indicated that only Met694Val (rs61752717) in the B30.2 domain of pyrin could affect the risk of AS (PÂ =Â 0.042; odds ratio [OR]Â =Â 5.103; 95% confidence interval [CI]Â =Â 1.111-23.437 for the model of Met (M) vs. Val (V), PÂ =Â 0.040; ORÂ =Â 5.211; 95% CIÂ =Â 1.127-24.091 for the model of MM vs. MVÂ +Â VV). Moreover, M694V is significantly associated with a higher level of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) in AS patients. Our results are the first to suggest that the M694V allele of the pyrin was associated with AS risk in the Chinese Han population and that this mutation may be associated with the inflammatory response in the development of AS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Immunology Letters - Volume 162, Issue 1, Part A, November 2014, Pages 49-52
Journal: Immunology Letters - Volume 162, Issue 1, Part A, November 2014, Pages 49-52
نویسندگان
Chongru He, Jia Li, Weidong Xu,