摘要
目的探讨程序性细胞死亡基因(PDCD1)单核苷酸多态性(SNP)对安徽籍汉族人群系统性红斑狼疮(SLE)患者易感性的影响。方法利用病例对照研究方法,收集122例SLE确诊患者和143名正常对照的血标本,用酚-氯仿-蛋白酶K提取法提取基因组DNA,用DNA单向测序法进行SNP因子检测和筛查。结果PDCD1基因7809位点的基因型全部为G/G型,PDCD1基因7872位点存在C和T2种多态性,PDCD1基因8162位点存在G和A 2种多态性,在两组中分布差异有统计学意义(x2=8.55,x2=11.85,P<0.05)。PDCD1基因7872位点,病例组C/C、C/T、T/T基因型频率分别为36.1%、41.8%、22.1%,对照组分别为51.7%、35.0%、13.3%,两组间基因型分布差异有统计学意义(x2=7.411,P<0.05);PDCD1基因8162位点病例组G/G、G/A、A/A基因型频率分别为50.1%、20.3%、28.6%,对照组分别为57.6%、20.8%、22.6%,两组间等位基因型分布差异有统计学意义(x2=7.547,P<0.05)。PDCD1-7872杂合型、PDCD1-8162杂合型可能具有阻止汉族人发生SLE的作用(OR=0.583,OR=0.485)。结论安徽籍汉族人群PDCD1基因7809位点不呈现SNP,7872和8162位点SNP与SLE的易感性相关。
Objective To explore the frequencies and polymorphic distribution of intron 4 of programmed cell death 1 （PDCD1） gene, and to analyze its relation to the susceptibility of developing systemic lupus erythematosus（SLE） in indigenous Han Chinese from Anhui province. Methods Blood samples from 122 patients with confirmed SLE and 143 controls were collected for a case-control study. DNA of the subjects was extracted and amplified by polymerase chain reaction（PCR）. The single nucleotide polymorphisms（SNPs） of PDCD1 7809 locus,7872 locus and 8162 locus were further confirmed by direct DNA sequencing and BLAST. Results The PDCD 1 7809 locus was indentified as type G/G among all the subjects investigated. There were significant difference at PDCD1 7872 locus with C/T polymorphism and 8162 locus with G/A polymorphism between SLE patients and controls（x^2 = 8.55, x^2 = 11.85, P 〈 0.05）. The frequencies of genotype for 7872 locus with types of C/C,C/T and T/T in SLE patients were 36.1% , 41.8% and 22.1% , while in control they were 51.7% , 35.0% and 13.3% , respectively. There was significant difference in the frequency of mutation in 7872 locus between SLE patients and controls（x^2 = 7.411,P〈0.05）. The genotype frequencies of PDCD1 8162 locus G/G,G/A and A/A in SLE patients were 50.1% , 20.3 % and 28.6 % , while in control they were 57.6 % , 20.8 % and 22.6 % , respectively. There was significant difference in the frequency of mutation in 8162 locus alleles between SLE patients and controls（x^2 = 7. 547, P〈 0.05）. The genetype of PDCD1-7809（C/T） and PDCD1-8162（G/A） seemed to have the function of preventing the development of SLE（ OR = 0. 583, OR = 0. 485）. Conclusion The genotype of PDCD1 gene 7809 locus was G/G in all indigenous Han Chinese, while the SNPs of PDCD1 gene 7872 locus and 8162 locus might affect the susceptibility to SLE development.
出处
《中华流行病学杂志》
CAS
CSCD
北大核心
2005年第9期698-701,共4页
Chinese Journal of Epidemiology
基金
国家自然科学基金资助项目(30371247)安徽省教育厅重点科研基金资助项目(2002kj175ZD)
