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

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dc.contributor.authorBen-Eli, Hadas
dc.contributor.authorGomel, Nir
dc.contributor.authorAframian, Doron Jacob
dc.contributor.authorAbu-Seir, Rania
dc.contributor.authorPerlman, Riki
dc.contributor.authorBen-Chetrit, Eldad
dc.contributor.authorMevorach, dror
dc.contributor.authorKleinstern, Geffen
dc.contributor.authorPaltiel, Ora
dc.contributor.authorSolomon, Abraham
dc.date.accessioned2019-11-06T13:40:02Z
dc.date.available2019-11-06T13:40:02Z
dc.date.issued2019-01-19
dc.description.abstractBackground: 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.sponsorshipAcknowledgments 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.citationTY - 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.identifier.urihttps://dspace.alquds.edu/handle/20.500.12213/4882
dc.language.isoenen_US
dc.publisherBMCen_US
dc.subjectSjogren’s syndromeen_US
dc.subjectDre eye syndromeen_US
dc.subjectSNPen_US
dc.subjectAnti-inflammatoryen_US
dc.subjectCytokinesen_US
dc.subjectCorneaen_US
dc.subjectTNFαen_US
dc.subjectIL-10en_US
dc.subjectTNFAIP3en_US
dc.titleSNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndromeand Sjogren’s syndromeen_US
dc.typeArticleen_US
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