单核苷酸多态性与自身免疫性疾病相关性的研究进展

自身免疫性疾病的发生是遗传和环境因素共同作用的结果,在遗传学研究中,HL4基因被认为对自身免疫性疾病的易感性影响最大,而连锁分析发现多个非HLA区域也与自身免疫性疾病的发生相关,而且单核苷酸多态性与疾病的相关性是近年来研究的热点,这不仅为我们进一步了解这类复杂疾病的发病机制提供了线索,而且有可能会有利于发现新的防御及干预措施.本文综述了PTPN22、IL-23R、STAT4、CD226几个热点非HLA基因的单核苷酸多态性与自身免疫性疾病易感性的研究进展.

Advances in the research of the association between single nucleotide polymorphism of candidate gene and susceptibility of autoimmune diseases

Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genetic and environmental factors. The strongest influence on susceptibility to autoimmunity is the human leukocyte antigen ( HLA), however, linkage analyses among multiple affected family members have established that non-HLA chromosomal susceptibility regions also influence the susceptibility towards AID. Recently, most genetic researches have focused on the association between single nucleotide polymorphism and susceptibility of diseases. These works will enhance our understanding of the mechanisms that mediate these complex diseases, and allow us to predict and/or prevent them, and to discover new therapeutic interventions. This article summarizes the advances in the research of single nucleotide polymorphism of several non-HLA genes (such as PTP!V22,IL-23R,STAT4,CD226) and susceptibility of autoimmune diseases.