CAJ | 학술논문

目的探讨真核细胞翻译起始因子(eIF4E)、基质金属蛋白酶-9(MMP-9)基因内的单核苷酸多态性与山东汉族寻常性银屑病的关系.方法基于群体的病例对照关联分析方法,利用Taqman分型方法对188例银屑病患者及280例正常对照人群MMP-9基因内的2个位点以及eIF4E基因内的1个位点进行分析,对基因型频率及等位基因频率采用PLINK软件进行统计学分析.结果位于MMP-9基因上游调控区域的rs4810482等位基因T在银屑病组中的频率显著低于对照组(OR=1.49,95％ CI=1.12～1.99,P＜ 0.01),在隐性与显性遗传模型分析中,差异具有统计学意义.生物信息学分析表明,该位点可能改变了转录因子的结合位点.在研究中分析的其余两个位点rs3918254和rs11723037与银屑病无相关性.结论位于MMP-9基因上游调控区域的rs4810482与银屑病具有显著相关性,可能是银屑病的一个易感基因.
목적 탐토진핵세포번역기시인자(eIF4E)、기질금속단백매-9(MMP-9)기인내적단핵감산다태성여산동한족심상성은설병적관계.방법 기우군체적병례대조관련분석방법,이용Taqman분형방법대188례은설병환자급280례정상대조인군MMP-9기인내적2개위점이급eIF4E기인내적1개위점진행분석,대기인형빈솔급등위기인빈솔채용PLINK연건진행통계학분석.결과 위우MMP-9기인상유조공구역적rs4810482등위기인T재은설병조중적빈솔현저저우대조조(OR=1.49,95％ CI=1.12～1.99,P＜ 0.01),재은성여현성유전모형분석중,차이구유통계학의의.생물신식학분석표명,해위점가능개변료전록인자적결합위점.재연구중분석적기여량개위점rs3918254화rs11723037여은설병무상관성.결론 위우MMP-9기인상유조공구역적rs4810482여은설병구유현저상관성,가능시은설병적일개역감기인.
Objective To investigate the association of eIF4E and MMP-9 gene polymorphisms with psoriasis vulgaris in Han population of Shandong province.Methods A population based case-control association study was carried out in 188 patients with psoriasis vulgaris and 280 healthy human controls of Han nationality from Shandong province.Taqman SNP genotyping assay was performed to assess three SNPs,including rs4810482 and rs3918254 in MMP-9 gene and rs11723037 in eIF4E gene.Pairwise linkage disequilibrium was evaluated by using Haploview 4.2 software,and the frequencies of alleles and genotypes were analyzed by using Plink 1.07 software.Results The frequency of rs4810482 T allele was significantly lower in patients with psoriasis vulgaris than in the normal human controls(OR =1.49,95％ CI:1.12-1.99,P ＜ 0.01),and the significant difference still remained under recessive and dominant model.Bioinformatic analysis revealed that the rs4810482 altered the binding site of transcription factor,while no association was observed between psoriasis and either of the other two SNPs.Conclusions The SNP rs4810482 located at the upstream regulatory region of MMP-9 gene is significantly associated with psoriasis,hence,MMP-9 gene may be a susceptibility gene for psoriasis in Han population of Shandong province.