Guasch J F, Bertina R M, Reitsma P H
Hemostasis and Thrombosis Research Center, Leiden University Hospital, The Netherlands.
Cytokine. 1996 Aug;8(8):598-602. doi: 10.1006/cyto.1996.0080.
The cytokine interleukin-1 (IL-1) plays a key role in the pathogenesis of inflammatory and immune diseases. Several disease-genotype association studies have addressed the question whether genetic determinants of outcome or severity of disease exist. These studies were hampered by the lack of highly polymorphic markers in the interleukin-1 beta (IL-1B) and IL-1 receptor antagonist (IL-1RN) genes. Polymorphisms in these two genes were searched for in order to increase informativity. Here a novel BsoF I dimorphism and the characterization and PCR detection of a previously identified Taq I polymorphism in the IL-1B gene is reported. Furthermore, in the IL-1RN gene four novel diallelic markers were identified. Little linkage disequilibrium is observed between the two markers in IL-1B gene. Similarly, some of the markers in IL-1RN gene show little linkage disequilibrium. Using the markers described here it is possible to reach a better level of informativity in genotype-disease association studies.
细胞因子白细胞介素-1（IL-1）在炎症和免疫疾病的发病机制中起关键作用。多项疾病-基因型关联研究探讨了是否存在疾病转归或严重程度的遗传决定因素这一问题。这些研究因白细胞介素-1β（IL-1B）和白细胞介素-1受体拮抗剂（IL-1RN）基因中缺乏高度多态性标记而受到阻碍。为了提高信息性，对这两个基因中的多态性进行了搜索。本文报道了IL-1B基因中一种新的BsoF I二态性以及先前鉴定的Taq I多态性的特征和PCR检测。此外，在IL-1RN基因中鉴定出四个新的双等位基因标记。IL-1B基因中的两个标记之间观察到很少的连锁不平衡。同样，IL-1RN基因中的一些标记也显示出很少的连锁不平衡。使用本文所述的标记，在基因型-疾病关联研究中可以达到更好的信息性水平。
