PTPN22-1123G>C 多态性与类风湿关节炎的抗环瓜氨酸肽抗体。
PTPN22 -1123G>C polymorphism and anti-cyclic citrullinated protein antibodies in rheumatoid arthritis.
机构信息
Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.
出版信息
Med Clin (Barc). 2017 Aug 10;149(3):95-100. doi: 10.1016/j.medcli.2017.01.025. Epub 2017 Mar 11.
BACKGROUND AND OBJECTIVES
The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes an important negative regulator of T-cell activation, lymphoid-specific phosphatase -Lyp- and has been associated with different autoimmune disorders. The PTPN22 -1123G>C polymorphism appears to affect the transcriptional control of this gene, but to date, the biological significance of this polymorphisms on rheumatoid arthritis (RA) risk remains unknown. We evaluate the association of PTPN22 -1123G>C polymorphism with anti-cyclic citrullinated protein antibodies (anti-CCP) and risk for RA in population from Western Mexico.
MATERIAL AND METHODS
A transversal analytic study, which enrolled 300 RA patients classified according to ACR-EULAR criteria and 300 control subjects (CS) was conducted. The -1123 G>C polymorphism was genotyped by PCR-RFLP. The anti-CCP antibodies levels were quantified by ELISA kit.
RESULTS
We found a higher prevalence of homozygous PTPN22 -1123CC genotype in CS than in RA patients (OR 0.41; 95% confidence interval 0.24-0.71; P=.001), suggesting a potential protective effect against RA. Concerning anti-CCP levels, the CC genotype carriers showed the lowest median levels in RA (P<.05).
CONCLUSION
The PTPN22 -1123CC genotype is a protector factor to RA in a Mexican-mestizo population and is associated with low anti-CCP antibodies.
背景与目的
蛋白酪氨酸磷酸酶非受体型 22（PTPN22）基因编码 T 细胞激活的重要负调控因子——淋巴特异性磷酸酶（Lyp），并与多种自身免疫性疾病相关。PTPN22-1123G>C 多态性似乎影响该基因的转录调控，但迄今为止，该多态性对类风湿关节炎（RA）风险的生物学意义尚不清楚。我们评估了 PTPN22-1123G>C 多态性与抗环瓜氨酸肽抗体（anti-CCP）及墨西哥西部人群 RA 发病风险的相关性。
材料与方法
我们进行了一项横断面分析研究，纳入了 300 例符合 ACR-EULAR 标准的 RA 患者和 300 名对照（CS）。采用 PCR-RFLP 法检测-1123G>C 多态性。采用 ELISA 试剂盒定量检测抗 CCP 抗体水平。
结果
我们发现 CS 中纯合 PTPN22-1123CC 基因型的患病率高于 RA 患者（OR 0.41；95%置信区间 0.24-0.71；P=.001），提示其对 RA 有潜在的保护作用。就抗 CCP 水平而言，CC 基因型携带者的 RA 中位数水平最低（P<.05）。
结论
在墨西哥混血人群中，PTPN22-1123CC 基因型是 RA 的保护因素，与低水平的抗 CCP 抗体相关。
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