Djouadi K, Nedelec B, Tamouza R, Genin E, Ramasawmy R, Charron D, Delpech M, Laoussadi S
EMI 00-05, Institut Cochin de Génétique Moléculaire, CHU Cochin, 24 rue du Fg St Jacques, 75014 Paris, France.
Cytokine. 2001 Jan 21;13(2):98-103. doi: 10.1006/cyto.2000.0795.
Interleukin 1alpha (IL-1alpha) has been implicated in the pathogenesis of infectious, auto-immune and inflammatory diseases. Polymorphisms in the genes encoding IL-1alpha, IL-1beta and the IL-1 receptor antagonist (ILRN) molecules have been associated with several inflammatory diseases. As the marker D2S160 has been characterized as a candidate locus for Ankylosing Spondylitis (AS) after a genome-wide scan, and since this locus is located approximately 0.3 cM telomeric to the IL-1 gene cluster, we hypothesized that these cytokines might be good candidates for Spondylarthropathies (SpA). Therefore we tested this hypothesis using the transmission disequilibrium test (TDT) in 37 families representing 217 subjects from three intragenic IL-1 gene cluster polymorphisms, the IL1B Taq I, the ILRN 2nd intron, and the IL1A Nco I, taking HLA B27 status into account or not. In conclusion, by means of intra-familial TDT analysis we found no linkage or intra-familial association between SpA and the three IL-1 gene-cluster polymorphisms in SpA multiplex family material.
白细胞介素1α（IL-1α）与感染性、自身免疫性和炎性疾病的发病机制有关。编码IL-1α、IL-1β和白细胞介素1受体拮抗剂（ILRN）分子的基因多态性与多种炎性疾病相关。由于在全基因组扫描后，标记D2S160已被确定为强直性脊柱炎（AS）的候选基因座，且该基因座位于IL-1基因簇端粒约0.3 cM处，我们推测这些细胞因子可能是脊柱关节病（SpA）的良好候选基因。因此，我们使用传递不平衡检验（TDT）对37个家庭进行了测试，这些家庭代表了来自三个基因内IL-1基因簇多态性（IL1B Taq I、ILRN第2内含子和IL1A Nco I）的217名受试者，同时考虑或不考虑HLA B27状态。总之，通过家族内TDT分析，我们发现在SpA多重家庭材料中，SpA与三个IL-1基因簇多态性之间没有连锁或家族内关联。
