最近的基因组搜索表明,许多基因座与I型糖尿病易感性之间存在推定的联系。据报道,染色体2q31-35区域与I型糖尿病易感性有关,并被认为包含几个糖尿病易感性基因座。这些候选基因包括HOXD基因簇,BETA2、CTLA4、CD28、IGFBP2和IGFBP5。需要在人群和家庭中进行关联研究以确认和/或确定实际的易感基因座。我们在此报告了HOXD8,BETA2和IGFBP5的几种先前未知的DNA多态性,我们已将其与HOXD8和CTLA4的先前已知多态性一起使用,以测试这些候选基因座是否是2q31-35染色体上的易感基因。使用病例控制设计和随后的家庭关联方法来确认关联,我们没有发现这些候选基因与I型糖尿病易感性相关的证据.
Recent genome searches suggest a putative linkage of many loci to susceptibility to type I diabetes. The chromosome 2q31-35 region is reported to be linked to susceptibility to type I diabetes and is thought to contain several diabetes susceptibility loci. These candidate genes include the HOXD gene cluster, BETA2, CTLA4, CD28, IGFBP2, and IGFBP5. Association studies in populations and families are required to confirm and/or identify the actual susceptibility loci. We hereby report several previously unknown DNA polymorphisms for HOXD8, BETA2, and IGFBP5, which we have used along with previously known polymorphisms of HOXD8 and CTLA4 to test whether these candidate loci are the susceptibility genes on chromosome 2q31-35. Using a
case-control design with a subsequent family-association approach to confirm associations, we find no evidence that these candidate genes are associated with susceptibility to type I diabetes.