中文摘要：

目的探讨中国长江以南汉族女性系统性红斑狼疮（SLE）患者细胞毒性T淋巴细胞相关抗原4（CTLA-4）及程序性细胞凋亡-1（PDCD-1）基因多态与环境因素的交互作用。方法采用单纯病例研究设计，收集258例符合条件的患者，应用聚合酶链反应一限制性片段长度多态（PCR—RFLP）技术检测cTLA-4与PDCD-1基因的单核苷酸多态性（SNPs），分别在显性、隐性、相加及相乘遗传模式下，选择Poisson对数线性模型估计基因一基因、基因一环境交互作用。结果在PDCD-1基因的PD1．6位点，隐性及相加遗传模式下均存在GG基因型与紫外线暴露史的交互作用，OR值分别为3．714（95％CI：1．235～11．179）和3．199（95％CI：1．023～10．004）。在CTLA4-1722位点，显性遗传模式下，存在TT或TC基因型与紫外线暴露史的交互作用，OR值为4．874（95％CI：1．119—21．242）；相乘遗传模式下存在PDCD-1基因的T等位基因与紫外线暴露史的交互作用，OR值为1．470（95％CI：1．047～2．065）；而在相加遗传模式下，TT和TC基因型分别与紫外线暴露史存在交互作用，OR值分别为4．744（95％CI：1．037～21．737）和4．973（95％CI：1．110～22．287）。结论在中国长江以南汉族女性SLE患者中，紫外线暴露史分别与CTLA4及PDCD-1基因多态存在交互作用，提示基因一环境交互作用可能与SLE有关。

英文摘要：

Objective To explore the interactions of gene polymorphisms of cytotoxic T lymphocyte antigen 4 （CTLA-4） and programmed cell death 1 （PDCD-1） with risk environmental factors in individuals with systemic lupus erythematosns （SLE） from Han nationality female population in South of Changjiang River region of China. Methods With a case-only design, a total of 258 cases were enrolled in this study, and single nucleotide polymorphisms（SNPs） of the PDCD-1 and CTLA4 genes were determined by means of PCR-RFLP. With the aid of Poisson loglinear mode, interactions between gene-gene and gene-environment were fitted under the dominant, recessive, additive and multiple models, respectively. Results It was found that interaction existed between GG genotype of PD1.6 and UV history under separate inherent models of the recessive mode（ OR = 3. 714,95% CI： 1. 235 - 11. 179 ） and additive mode （ OR = 3. 199,95% CI： 1. 023 - 10. 004）. For CTLA-4 locus, there existed interactions between TT/TC genotype of -1722T→C and UV history under the dominant model （OR = 4. 874,95% CI： 1.119 -21. 242 ）, and interaction between T allele and UV history was also found under the multiple model （ OR = 1. 470,95% CI： 1. 047 - 2. 065 ）. While, under the additive mode for CTLA-4,it was found that interactions existed between TT genotype of-1722T→ C and UV history （ OR =4. 744,95% CI： 1. 037 - 21. 737 ） , as well as between TC genotype of -1722T→C and UV history （OR = 4. 973,95% CI： 1.110 -22. 287 ）. Conclusion The interactions between UV history and polymorphisms of CTLA-4 and PDCD-1 gene for SLE were observed, which indicates that there may be association of their interactions with the development of SLE in Han nationality females population in the south regions of Changjiang River in China.