HLA区域的端粒部分独立于II类基因座，易引发类风湿性关节炎。

The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci.

作者信息

Zanelli E, Jones G, Pascual M, Eerligh P, van der Slik A R, Zwinderman A H, Verduyn W, Schreuder G M, Roovers E, Breedveld F C, de Vries R R, Martin J, Giphart M J

机构信息

Department of Immunohaematology and Blood Transfusion, Leiden University Medical Centre, The Netherlands.

出版信息

Hum Immunol. 2001 Jan;62(1):75-84. doi: 10.1016/s0198-8859(00)00227-5.

DOI:10.1016/s0198-8859(00)00227-5

PMID:11165717

Abstract

We have evaluated the possible contribution of genes besides DQ and DR to the association of HLA with rheumatoid arthritis (RA). To this end, we have looked at the allele distributions of six microsatellites, D6S1014, D6S2673, TNFalpha, MIB, C1-2-5, and C1-3-2 among 132 RA patients and 254 controls. We have defined 19 microsatellite clusters corresponding to previously described ancestral haplotypes. One of them was D6S1014143-D6S273139-TNFalpha99-MIB350-C1-2-5196-C1-3-2354, often found associated with DQB10201-DRB10301. As part of this microsatellite cluster, the allele MIB350 was found to be a RA-predisposing factor, independent of DRB10301 and RA-predisposing haplotypes DQB103-DRB104 and DQB10501-DRB101. We conclude that the telomeric part of the HLA region contains a locus conferring predisposition to RA independently of HLA class II.

摘要

我们评估了除DQ和DR之外的基因对HLA与类风湿性关节炎（RA）关联的可能贡献。为此，我们研究了132例RA患者和254例对照中六个微卫星D6S1014、D6S2673、TNFα、MIB、C1 - 2 - 5和C1 - 3 - 2的等位基因分布。我们定义了19个与先前描述的祖先单倍型相对应的微卫星簇。其中之一是D6S1014143 - D6S273139 - TNFα99 - MIB350 - C1 - 2 - 5196 - C1 - 3 - 2354，经常发现它与DQB10201 - DRB10301相关联。作为这个微卫星簇的一部分，等位基因MIB350被发现是一个RA易感因素，独立于DRB10301以及RA易感单倍型DQB103 - DRB104和DQB10501 - DRB101。我们得出结论，HLA区域的端粒部分包含一个独立于HLA II类基因的RA易感位点。