PMID- 30923465
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220408
IS  - 1476-9255 (Print)
IS  - 1476-9255 (Electronic)
IS  - 1476-9255 (Linking)
VI  - 16
DP  - 2019
TI  - SNP variations in IL10, TNFalpha and TNFAIP3 genes in patients with dry eye syndrome 
      and Sjogren's syndrome.
PG  - 6
LID - 10.1186/s12950-019-0209-z [doi]
LID - 6
AB  - 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 alpha (TNFalpha) 
      (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 TNFalpha 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 TNFalpha allele significantly associated with DES for 
      homozygotes, and associated with SS for heterozygotes in the additive model.
FAU - Ben-Eli, Hadas
AU  - Ben-Eli H
AD  - 1Braun School of Public Health and Community Medicine, Hadassah-Hebrew University 
      of Jerusalem, POB 12000, 91120 Jerusalem, Israel. ISNI: 0000 0004 1937 0538. 
      GRID: grid.9619.7
AD  - 2Department of Ophthalmology, Hadassah-Hebrew University Medical Center, POB 
      12000, 91120 Jerusalem, Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
AD  - 3Department of Optometry and Vision Science, Hadassah Academic College, 
      Jerusalem, Israel. ISNI: 0000 0004 0366 7759. GRID: grid.443085.e
FAU - Gomel, Nir
AU  - Gomel N
AD  - 4School of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Aframian, Doron Jacob
AU  - Aframian DJ
AD  - 5Department of Oral Medicine, Sedation and Maxillofacial Imaging and Sjogren's 
      Syndrome Center, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. 
      ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Abu-Seir, Rania
AU  - Abu-Seir R
AD  - 6Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Perlman, Riki
AU  - Perlman R
AD  - 6Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Ben-Chetrit, Eldad
AU  - Ben-Chetrit E
AD  - 7Unit of Rheumatology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Mevorach, Dror
AU  - Mevorach D
AD  - 8Department of Internal Medicine, Hadassah-Hebrew University Medical Center, 
      Jerusalem, Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Kleinstern, Geffen
AU  - Kleinstern G
AD  - 1Braun School of Public Health and Community Medicine, Hadassah-Hebrew University 
      of Jerusalem, POB 12000, 91120 Jerusalem, Israel. ISNI: 0000 0004 1937 0538. 
      GRID: grid.9619.7
AD  - 9Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA. ISNI: 
      0000 0004 0459 167X. GRID: grid.66875.3a
FAU - Paltiel, Ora
AU  - Paltiel O
AD  - 1Braun School of Public Health and Community Medicine, Hadassah-Hebrew University 
      of Jerusalem, POB 12000, 91120 Jerusalem, Israel. ISNI: 0000 0004 1937 0538. 
      GRID: grid.9619.7
AD  - 6Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
FAU - Solomon, Abraham
AU  - Solomon A
AD  - 2Department of Ophthalmology, Hadassah-Hebrew University Medical Center, POB 
      12000, 91120 Jerusalem, Israel. ISNI: 0000 0001 2221 2926. GRID: grid.17788.31
LA  - eng
PT  - Journal Article
DEP - 20190318
PL  - England
TA  - J Inflamm (Lond)
JT  - Journal of inflammation (London, England)
JID - 101232234
PMC - PMC6421669
OTO - NOTNLM
OT  - Anti-inflammatory
OT  - Cornea
OT  - Cytokines
OT  - Dre eye syndrome
OT  - IL-10
OT  - SNP
OT  - Sjogren's syndrome
OT  - TNFAIP3
OT  - TNFalpha
COIS- This study was approved by the Helsinki committee of Hadassah (study #: 
      HMO-0409-13) and by the National Committee for Genetic research (study #: 
      920130158). All participants signed an informed consent form.Not applicable.The 
      authors declare that they have no competing interests.Springer Nature remains 
      neutral with regard to jurisdictional claims in published maps and institutional 
      affiliations.
EDAT- 2019/03/30 06:00
MHDA- 2019/03/30 06:01
PMCR- 2019/03/18
CRDT- 2019/03/30 06:00
PHST- 2018/12/24 00:00 [received]
PHST- 2019/02/25 00:00 [accepted]
PHST- 2019/03/30 06:00 [entrez]
PHST- 2019/03/30 06:00 [pubmed]
PHST- 2019/03/30 06:01 [medline]
PHST- 2019/03/18 00:00 [pmc-release]
AID - 209 [pii]
AID - 10.1186/s12950-019-0209-z [doi]
PST - epublish
SO  - J Inflamm (Lond). 2019 Mar 18;16:6. doi: 10.1186/s12950-019-0209-z. eCollection 
      2019.