SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndrome and Sjogren's syndrome

Hadas Ben-Eli, Nir Gomel, Doron Jacob Aframian, Rania Abu-Seir, Riki Perlman, Eldad Ben-Chetrit, Dror Mevorach, Geffen Kleinstern, Ora Paltiel, Abraham Solomon*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageAmerican English
Article number6
JournalJournal of Inflammation
Issue number1
StatePublished - 18 Mar 2019

Bibliographical note

Funding Information:
This research was funded by the “Israeli Cancer Association” (grant number: 8037815).

Publisher Copyright:
© 2019 The Author(s).


  • Anti-inflammatory
  • Cornea
  • Cytokines
  • Dre eye syndrome
  • IL-10
  • SNP
  • Sjogren's syndrome
  • TNFα


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