肿瘤坏死因子区域基因标记与类风湿关节炎易感性的主要关联。
Primary association of tumor necrosis factor-region genetic markers with susceptibility to rheumatoid arthritis.
作者信息
Martínez A, Fernández-Arquero M, Pascual-Salcedo D, Conejero L, Alves H, Balsa A, de la Concha E G
机构信息
Hospital Clinico San Carlos, Madrid, Spain.
出版信息
Arthritis Rheum. 2000 Jun;43(6):1366-70. doi: 10.1002/1529-0131(200006)43:6<1366::AID-ANR21>3.0.CO;2-S.
OBJECTIVE
To determine whether tumor necrosis factor (TNF) polymorphisms are associated with susceptibility to rheumatoid arthritis (RA) independently of the HLA-DR shared epitope.
METHODS
Fifty-two Spanish families with one or more affected members were typed for HLA-DRB1, TNF promoter polymorphisms, and TNFa and TNFb microsatellites. We performed an association analysis comparing transmitted versus not transmitted haplotypes, with or without shared epitope, to determine whether there is an independent effect of TNF genetic markers on RA susceptibility.
RESULTS
TNFa6,b5 was significantly associated with susceptibility to RA. The haplotypes containing these markers were preferentially transmitted to the affected offspring, even if these haplotypes lacked the HLA-DR shared epitope. TNF promoter polymorphisms were not associated with susceptibility to RA.
CONCLUSION
The data suggest that TNFa/b is an independent marker of RA susceptibility, pointing to a genetic role of the TNF region in the pathogenesis of RA.
目的
确定肿瘤坏死因子（TNF）基因多态性是否独立于HLA - DR共享表位与类风湿关节炎（RA）易感性相关。
方法
对52个有一名或多名患病成员的西班牙家庭进行HLA - DRB1、TNF启动子多态性以及TNFα和TNFβ微卫星分型。我们进行了关联分析，比较有或无共享表位的传递型与非传递型单倍型，以确定TNF基因标记对RA易感性是否有独立影响。
结果
TNFα6，β5与RA易感性显著相关。即使这些单倍型缺乏HLA - DR共享表位，包含这些标记的单倍型也优先传递给患病后代。TNF启动子多态性与RA易感性无关。
结论
数据表明TNFα/β是RA易感性的独立标记，提示TNF区域在RA发病机制中具有遗传作用。
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