Background Cytokines are known to be key players in dry eye syndrome (DES) and Sjogren's syndrome (SS) pathogenesis. In this study we compared single nucleotide polymorphism (SNP) variations in genes encoding cytokine levels among SS and DES patients in Israel. Methods We recruited 180 subjects, 82 with SS and 98 with DES. Using a candidate gene approach and allele-specific PCR technique for genotyping, proportions of risk alleles in Tumor Necrosis Factor α (TNFα) (rs1800629), IinterLeukin-10 (IL-10) (rs1800896) and TNFAIP3 (rs2230926) SNPs were compared between study groups. Results Allelic distribution was found very similar to Caucasian (CEU - Utah residents with Northern and Western European roots) population distributions in these SNPs. While none of the SNPs' variants were significantly associated with SS or DES in a recessive model, in an additive model the TNFα G risk allele was found higher among SS patients compared to DES (Homozygote-G: 84.2% vs. 70.8%; Heterozygote: 26.9% vs. 11.2%, respectively, p = 0.02). After adjustment for age, gender and ethnicity, these variants weren't associated with SS. Genetic scoring reveals that SS patients are more likely to present variants of all three SNPs than DES subjects. Conclusions This is the first study evaluating these SNP variations among both patients with DES and patients with SS. We found the allelic distribution in each SNP to be very similar to that found in healthy Caucasian populations presented in the HapMap project. We found the TNFα allele significantly associated with DES for homozygotes, and associated with SS for heterozygotes in the additive model.

中文翻译：

---

干眼症和干燥综合征患者 IL10、TNFα 和 TNFAIP3 基因的 SNP 变异。

背景已知细胞因子是干眼症 (DES) 和干燥综合征 (SS) 发病机制的关键因素。在这项研究中，我们比较了以色列 SS 和 DES 患者中编码细胞因子水平的基因的单核苷酸多态性 (SNP) 变异。方法 我们招募了 180 名受试者，其中 82 名 SS 和 98 名 DES。使用候选基因方法和等位基因特异性 PCR 技术进行基因分型，比较了肿瘤坏死因子 α (TNFα) (rs1800629)、IinterLeukin-10 (IL-10) (rs1800896) 和 TNFAIP3 (rs2230926) SNP 中风险等位基因的比例学习小组。结果在这些 SNP 中发现等位基因分布与高加索人（CEU - 具有北欧和西欧根源的犹他州居民）人口分布非常相似。虽然没有一个 SNP' 在隐性模型中，变异与 SS 或 DES 显着相关，在加性模型中，与 DES 相比，SS 患者的 TNFα G 风险等位基因更高（纯合子-G：84.2% vs. 70.8%；杂合子：26.9% vs. 11.2 %，分别为 p = 0.02）。在对年龄、性别和种族进行调整后，这些变异与 SS 无关。遗传评分显示，SS 患者比 DES 受试者更可能呈现所有三种 SNP 的变体。结论 这是第一项评估 DES 患者和 SS 患者中这些 SNP 变异的研究。我们发现每个 SNP 中的等位基因分布与在 HapMap 项目中呈现的健康高加索人群中发现的非常相似。我们发现 TNFα 等位基因与纯合子的 DES 显着相关，