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PDCD1和CD22基因多态与中国南方汉族人群系统性红斑狼疮相关性研究 被引量:5

Association Study of PDCD1 and CD22 Polymorphisms with the Development of Systemic Lupus Erythematosus in Southern Chinese Han People
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摘要 目的探讨PDCD1(programmed cell death-1)和CD22基因单核苷酸多态性(SNP)与中国南方汉族人群系统性红斑狼疮(systemic lupus erythematosus,SLE)的相关性。方法采用病例对照研究,收集164例病例和163例对照,应用PCR-RFLP技术检测PD1.2G>A和CD22A>T两个位点的SNPs,进行关联性分析(基因型、等位基因分析等)。结果PD1.2G>A位点的基因型频率分布在SLE病例组和对照组之间差异有统计学意义(χ2=9.806,P=0.007,υ=2),其中A等位基因的OR为0.661,95%CI:0.463~0.943。CD22A>T位点的基因型在病例组和对照组中的分布差异无统计学意义(χ2=4.111,P=0.128,υ=2),而T等位基因的OR为0.656,95%CI:0.431~0.999。PD1.2G>A位点和CD22A>T位点的基因型未发现交互作用(χ2=4.172,P=0.383,υ=4)。结论在中国南方汉族人群中,PDCD1基因PD1.2G>A位点和CD22A>T位点多态性与SLE具有相关性,PD1.2G>A的G→A突变和CD22A>T的A→T突变可能都是SLE的保护因素。 Objective To explore the association of PDCD1 and CD22 single nucleotide polymorphisms (SNPs) with the development of systemic lupus erythematosus (SLE) in Southern Chinese Han people. Methods A case - control study was performed. We genotyped SNPs of PD1.2 G 〉 A and CD22 A 〉 T from 164 cases and 163 controls by PCR - RFLP, and association analysis of genotypes and alleles for the two loci was also conducted. Results In PD1.2 G 〉 A, there was a significant difference of genotype distribution between cases and controls (X^2 = 9. 806, P = 0. 007, v = 2), while the carrier frequency of the A allele was significantly decreased in cases relative to healthy controls ( OR = 0. 661, 95% CI: 0. 463 - 0. 943 ). In CD22A 〉 T, there was no significant difference of genotype distribution between cases and controls (X^2 = 4. 111, P = 0. 128, v =2), while T allele had relative higher proportion in controls ( OR =0. 656, 95% CI: 0. 431 -0. 999). There was no interaction between PD1.2 G 〉 A and CI)22 A 〉 T on the development of SLE ( X^2 = 4. 172, P = 0. 383, v = 4). Conclusion In Southern Chinese Hem population, the polymorphisms of PD1.2G 〉 A and CD22A 〉 T are associated with the development of SLE. The G→A mutation in PD1. 2G 〉 A and the A→T mutation in CD22A 〉 T may be protective for SLE.
出处 《中国预防医学杂志》 CAS 2008年第5期321-324,共4页 Chinese Preventive Medicine
基金 国家自然科学基金资助项目(30471485)
关键词 系统性红斑狼疮 PDCD1 CD22 单核苷酸多态性 Systemic lupus erythematosus Programmed cell death - 1 ( PDCD1) CD22 Single nucleotide polymorphism
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参考文献14

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共引文献2

同被引文献81

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  • 3孙燕,朱江,朱本章,张怡,马卫国,何岚.PD-1基因多态性与自身免疫性甲状腺病的相关性[J].西安交通大学学报(医学版),2007,28(3):237-240. 被引量:2
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