TLR4基因Asp299Gly、Thr399Ile错义突变与强直性脊柱炎的相关性研究

A study of association of the TLR4 gene Asp299Gly and Thr399Ile polymorphisms with ankylosing spondylitis

强直性脊柱炎是一种以中轴关节受累为主要病变的自身免疫性疾病.新近的研究显示,TLR4基因多态与强直性脊柱炎的发生和病情发展有关,但迄今尚未见对中国人群的研究报道.该研究以病例-对照研究策略,采用PCR-RFLP和直接测序的方法,在107名强直性脊柱炎病例和112名健康对照个体中,对TLR4基因位于第3外显子编码区的rs4986790和rs4986791位点,即Asp299Gly和Thr399Ile错义突变进行多态检测.结果显示,在病例和正常对照样本中,均未检测到这2个位点的多态性,提示这2个位点多态与强直性脊柱炎的发生无关.这是首次在中国云南汉族人群中进行的TLR4基因多态与强直性脊柱炎的关联研究.

Ankylosing spondylitis(AS)is an autoimmune disease predominantly affecting the axial spine.Recently,genetic polymorphisms within the TLR4 gene have been reported to be associated with AS.To investigate the association between TLR4 gene and the susceptibility to AS in Chinese people,2 functional variants,Asp299Gly and Thr399Ile,in the TLR4 gene were genotyped using PCR-RFLP and direct sequencing techniques from 107 AS patients and 112 ethnically matched controls.None polymorphisms of Asp299Gly and Thr399Ile were detected in all controls and AS cases,which indicates that there is no relevance between these 2 SNPs and AS in the Chinese Han population.