Anaya J M, Correa P A, Mantilla R D, Arcos-Burgos M
Rheumatology Unit, Corporación para Investigaciones Biológicas, Medellín, Colombia, South America.
Genes Immun. 2002 Feb;3(1):56-8. doi: 10.1038/sj.gene.6363833.
In most ethnic groups genetic susceptibility to rheumatoid arthritis (RA) is associated with certain HLA-DRB1 alleles encoding a similar sequence motif called the 'shared epitope' (SE) spanning amino acid positions 70 to 74 in the third diversity region of the outermost domain of the HLA-DRB1 molecule. We examined the association of the SE and RA in 83 Colombian women with established RA and 90 healthy controls. The group HLA-DRB104 was associated with RA with respect to controls (47% vs 18%, respectively. OR: 4.1, 95%CI: 2.1-8.2, P < 0.001). HLA-DRB1 alleles carrying the SE QRRAA, but not those carrying QKRAA or RRRAA, were associated with disease (OR: 3.7, 95%CI: 1.73-7.83, P = 0.0009). This association was stronger among HLA-DRB104 carriers (OR: 23, 95%CI: 1.3-414, P = 0.002). In our population, the SE QRRAA expressed in DRB1*04 alleles appears critical in identifying women with increased susceptibility to RA.
在大多数种族群体中，类风湿关节炎（RA）的遗传易感性与某些HLA - DRB1等位基因相关，这些等位基因编码一种相似的序列基序，称为“共享表位”（SE），跨越HLA - DRB1分子最外层结构域第三个多样性区域中70至74位氨基酸。我们在83名确诊为RA的哥伦比亚女性和90名健康对照者中研究了SE与RA的关联。与对照组相比，HLA - DRB104组与RA相关（分别为47%和18%。比值比：4.1，95%置信区间：2.1 - 8.2，P < 0.001）。携带SE QRRAA的HLA - DRB1等位基因与疾病相关，而携带QKRAA或RRRAA的等位基因则不然（比值比：3.7，95%置信区间：1.73 - 7.83，P = 0.0009）。这种关联在HLA - DRB104携带者中更强（比值比：23，95%置信区间：1.3 - 414，P = 0.002）。在我们的人群中，DRB1*04等位基因中表达的SE QRRAA在识别对RA易感性增加的女性方面似乎至关重要。
