Blakemore A I, Cox A, Gonzalez A M, Maskil J K, Hughes M E, Wilson R M, Ward J D, Duff G W
Department of Medicine, University of Sheffield, UK.
Hum Genet. 1996 Mar;97(3):369-74. doi: 10.1007/BF02185776.
We have previously found association between an allele of the interleukin-1 (IL-1) receptor antagonist gene (IL1RN) and several inflammatory diseases, where IL-1 has been implicated in the inflammatory mechanism. We have now, therefore, tested the association of this specific allele (IL1RN2) with complications of diabetes which have an inflammatory tissue component. We have tested the allele frequency of IL1RN2 in 128 patients with insulin-dependent and 125 with non-insulin-dependent diabetes mellitus (NIDDM). There was a significant association between carriage of IL1RN2 and diabetic nephropathy (P<0.001, Pcorrected<0.0012). The association was significant in both types of diabetes, but the observed increase was highest in NIDDM, rising to double the control levels. It appears that IL1RN2 is a novel genetic marker of severity of inflammatory complications of diseases rather than a marker of disease susceptibility. If the DNA polymorphism is associated with altered gene function, new therapeutic interventions may be possible.
我们先前已发现白细胞介素-1（IL-1）受体拮抗剂基因（IL1RN）的一个等位基因与几种炎症性疾病之间存在关联，其中IL-1已被认为参与炎症机制。因此，我们现在测试了这个特定等位基因（IL1RN2）与具有炎症组织成分的糖尿病并发症之间的关联。我们检测了128例胰岛素依赖型糖尿病患者和125例非胰岛素依赖型糖尿病（NIDDM）患者中IL1RN2的等位基因频率。携带IL1RN2与糖尿病肾病之间存在显著关联（P<0.001，校正后P<0.0012）。这种关联在两种类型的糖尿病中均显著，但观察到的增加在NIDDM中最高，升至对照水平的两倍。看来IL1RN2是疾病炎症并发症严重程度的一种新的遗传标志物，而不是疾病易感性的标志物。如果DNA多态性与基因功能改变相关，那么可能会有新的治疗干预措施。
