An insight into the genetics of type 1 Diabetes
- 作者：Laura Espino-Paisá ; n ; lauraep80@yahoo.es ; Elena Urcelay ; Jose Luis Santiago
- 关键词：Type 1 Diabetes mellitus ; Genetics ; HLA ; CTLA4 ; PTPN22 ; Insulin
- 刊名：Inmunolog铆a
- 出版年：2009
- 期刊代码：pca191_02139626
- 类别：med
- 出版时间：October-December 2009
- 卷：28
- 期：4
- 页码：173-181
- 文件大小：472 K
摘要
Type 1 Diabetes (T1D) is a complex trait caused by T-cell mediated autoimmune destruction of islet beta cells in the pancreas, resulting of the interaction between genetic and environmental factors. Despite enormous advances in the study of T1D, the aethiologic mechanisms of this disease and the genetic and environmental factors involved remain not fully determined.
Research in the field of T1D genetics spans now for more than thirty years and up to 40 chromosomic regions associated with T1D susceptibility have been reported. Some of these, namely the HLA region or the insulin gene, are clearly established as risk factors while others need more study to confirm preliminary results. In this text we will review some of the main susceptibility genes currently accepted for T1D: the MHC class II alleles, the insulin gene, CTLA4, PTPN22, IL2 and its receptor subunit IL2RA, the helicase IFIH1/MDA5, the CAPSL-IL7R block, the lectin CLEC16A, the Th1 transcription factor STAT4, and the tyrosine phosphatase PTPN2.