SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndromeand Sjogren’s syndrome Ben-Eli, Hadas Gomel, Nir Aframian, Doron Jacob Abu-Seir, Rania Perlman, Riki Ben-Chetrit, Eldad Mevorach, dror Kleinstern, Geffen Paltiel, Ora Solomon, Abraham 2019-11-06T13:40:02Z 2019-11-06T13:40:02Z 2019-01-19
dc.description.abstract 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 allelespecific 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. en_US
dc.description.sponsorship Acknowledgments The authors thank Dr. Hagit Hochner for her advice on the statistical analysis, Noemie Cohen for her assistance with data entry and Rivkah Lender for proof reading. This work was part of Dr. Hadas Ben-Eli’s doctoral thesis; Braun School of Public Health and Community Medicine, Hadassah-Hebrew University of Jerusalem. Funding This research was funded by the “Israeli Cancer Association” (grant number: 8037815). en_US
dc.identifier.citation TY - JOUR AU - Ben-Eli, Hadas AU - Gomel, Nir AU - Aframian, Doron AU - Abu Seir, Rania AU - Perlman, Riki AU - Ben-Chetrit, Eldad AU - Mevorach, dror AU - Kleinstern, Geffen AU - Paltiel, Ora AU - Solomon, Abraham PY - 2019/12/01 SP - T1 - SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndrome and Sjogren’s syndrome VL - 16 DO - 10.1186/s12950-019-0209-z JO - Journal of Inflammation ER - en_US
dc.language.iso en en_US
dc.publisher BMC en_US
dc.subject Sjogren’s syndrome en_US
dc.subject Dre eye syndrome en_US
dc.subject SNP en_US
dc.subject Anti-inflammatory en_US
dc.subject Cytokines en_US
dc.subject Cornea en_US
dc.subject TNFα en_US
dc.subject IL-10 en_US
dc.subject TNFAIP3 en_US
dc.title SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndromeand Sjogren’s syndrome en_US
dc.type Article en_US
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
554.37 KB
Adobe Portable Document Format
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
1.71 KB
Item-specific license agreed upon to submission