Sharp Robert C, Abdulrahim Muna, Naser Ebraheem S, Naser Saleh A
Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida Orlando, FL, USA.
Front Cell Infect Microbiol. 2015 Dec 24;5:95. doi: 10.3389/fcimb.2015.00095. eCollection 2015.
Genome wide association studies have identified several genes that might be associated with increase susceptibility to Type 1 Diabetes (T1D) and Crohn's disease. Both Crohn's disease and T1D have a profound impact on the lives of patients and it is pivotal to investigate the genetic role in patients acquiring these diseases. Understanding the effect of single nucleotide polymorphisms (SNP's) in key genes in patients suffering from T1D and Crohn's disease is crucial to finding an effective treatment and generating novel therapeutic drugs. This review article is focused on the impact of SNP's in PTPN2 (protein tyrosine phosphatase, non-receptor type 2) and PTPN22 (protein tyrosine phosphatase non-receptor type 22) on the development of Crohn's disease and T1D. The PTPN2 gene mutation in T1D patients play a direct role in the destruction of beta cells while in Crohn's disease patients, it modulates the innate immune responses. The PTPN22 gene mutations also play a role in both diseases by modulating intracellular signaling. Examining the mechanism through which these genes increase the susceptibility to both diseases and gaining a better understanding of their structure and function is of vital importance to understand the etiology and pathogenesis of Type 1 Diabetes and Crohn's disease.
全基因组关联研究已经确定了几个可能与1型糖尿病（T1D）和克罗恩病易感性增加相关的基因。克罗恩病和1型糖尿病都会对患者的生活产生深远影响，因此研究基因在患者患上这些疾病过程中所起的作用至关重要。了解单核苷酸多态性（SNP）对1型糖尿病和克罗恩病患者关键基因的影响，对于找到有效的治疗方法和研发新型治疗药物至关重要。这篇综述文章聚焦于SNP对蛋白酪氨酸磷酸酶非受体2型（PTPN2）和蛋白酪氨酸磷酸酶非受体22型（PTPN22）在克罗恩病和1型糖尿病发病过程中的影响。1型糖尿病患者中的PTPN2基因突变在β细胞破坏中起直接作用，而在克罗恩病患者中，它调节先天性免疫反应。PTPN22基因突变也通过调节细胞内信号传导在这两种疾病中发挥作用。研究这些基因增加对这两种疾病易感性的机制，并更好地了解它们的结构和功能，对于理解1型糖尿病和克罗恩病的病因和发病机制至关重要。
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