Epidemiology and genetics of rheumatoid arthritis.

Epidemiology and genetics of rheumatoid arthritis.
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类风湿关节炎的流行病学和遗传学。

DOI:
10.1186/ar578
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发表时间:
2002
期刊:
Arthritis research
影响因子:
--
通讯作者:
Pearson JE
Pearson JE
中科院分区:
其他
文献类型:
--
作者:
Silman AJ;Pearson JE

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类风湿关节炎(RA)的患病率在许多人群中相对稳定,为0.5-1.0%。然而,据报道,皮马印第安人(5.3%)和奇佩瓦印第安人(6.8%)的RA患病率很高。相比之下,在中国和日本的人群中发病率较低。这些数据支持基因在疾病风险中的作用。迄今为止的研究表明,与其他自身免疫性疾病相比,RA的家族性复发风险较小。RA的主要遗传危险因素是HLA DRB1等位基因,这在世界各地的许多人群中都得到了一致的证明。目前最强的易感因子是HLA DRB1*0404等位基因。肿瘤坏死因子等位基因也与类风湿性关节炎有关。然而,据估计,这些基因只能解释50%的遗传效应。许多其他非mhc基因也因此被研究并与RA相关(如促肾上腺皮质激素释放激素、雌激素合成酶、IFN-γ和其他细胞因子)。环境因素也被研究与RA的关系。女性性激素可能在类风湿关节炎中起保护作用;例如,口服避孕药的使用和怀孕都与风险降低有关。然而,产后时期已被强调为RA发展的危险时期。此外,第一次怀孕后的母乳喂养风险最大。暴露于感染可能是类风湿性关节炎的触发因素,并且涉及许多因素(例如爱泼斯坦-巴尔病毒、细小病毒和一些细菌,如变形杆菌和支原体)。然而,流行病学数据迄今尚无定论。最近,人们对吸烟和类风湿性关节炎之间的联系重新产生了兴趣,迄今为止提供的数据与此一致,并暗示了风险的增加。
The prevalence of rheumatoid arthritis (RA) is relatively constant in many populations, at 0.5–1.0%. However, a high prevalence of RA has been reported in the Pima Indians (5.3%) and in the Chippewa Indians (6.8%). In contrast, low occurrences have been reported in populations from China and Japan. These data support a genetic role in disease risk. Studies have so far shown that the familial recurrence risk in RA is small compared with other autoimmune diseases. The main genetic risk factor of RA is the HLA DRB1 alleles, and this has consistently been shown in many populations throughout the world. The strongest susceptibility factor so far has been the HLA DRB1*0404 allele. Tumour necrosis factor alleles have also been linked with RA. However, it is estimated that these genes can explain only 50% of the genetic effect. A number of other non-MHC genes have thus been investigated and linked with RA (e.g. corticotrophin releasing hormone, oestrogen synthase, IFN-γ and other cytokines). Environmental factors have also been studied in relation to RA. Female sex hormones may play a protective role in RA; for example, the use of the oral contraceptive pill and pregnancy are both associated with a decreased risk. However, the postpartum period has been highlighted as a risk period for the development of RA. Furthermore, breastfeeding after a first pregnancy poses the greatest risk. Exposure to infection may act as a trigger for RA, and a number of agents have been implicated (e.g. Epstein–Barr virus, parvovirus and some bacteria such as Proteus and Mycoplasma). However, the epidemiological data so far are inconclusive. There has recently been renewed interest in the link between cigarette smoking and RA, and the data presented so far are consistent with and suggestive of an increased risk.
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