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ArticleClinical rheumatology2025

STAT3 rs1053005 (T/C) contributes to Behçet's disease risk and ocular lesions.

Rajaa Lahmar, Ramzi Zemni, Ahmed Adel Gereisha, Elyes Chabchoub, Anis Mzabi, Neirouz Ghannouchi, Foued Ben Hadj Slama

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Article in Clinical rheumatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Rajaa LahmarFaculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia. lah.raja84@gmail.com.ORCID http://orcid.org/0000-0002-1392-6086
Ramzi ZemniFaculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia.
Ahmed Adel GereishaFaculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia.
Elyes ChabchoubFaculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia.
Anis MzabiDepartment of Internal Medicine, University Hospital Sahloul, University of Sousse, Sousse, Tunisia.
Neirouz GhannouchiDepartment of Internal Medicine, University Hospital Farhat Hached, University of Sousse, Sousse, Tunisia.
Foued Ben Hadj SlamaFaculty of Medicine, Immunogenetic Unit, University of Sousse, Sousse, Tunisia.

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6 · The paper itself

Abstract

introductionSignal transducer and activator of transcription-3 (STAT3) is a nuclear transcription factor that seems to be involved in the pathogenesis of several autoimmune diseases. Herein, we investigated the association between polymorphisms in the 3'UTR of STAT3 with Behçet's disease (BD) susceptibility in a Tunisian cohort.

methodsThis study included 110 patients with BD and 116 age-unmatched healthy controls. STAT3 rs1053004 and rs1053005 polymorphisms were genotyped by mutagenically separated polymerase chain reaction with newly designed primers.

resultsThe rs1053005 CC genotype and minor C allele were more frequent in patients with BD than in healthy controls (19.1% vs. 7.8% and 37% vs. 26%, respectively). The CC genotype was found to be associated with BD in the co-dominant and recessive models (OR = 2.66, 95%CI = 0.97-7.29, p = 0.05 and OR = 2.67, 95%CI = 1.01-7.02, p = 0.04, respectively). STAT3 rs1053004 was found not to be in the Hardy-Weinberg equilibrium. The G allele was more frequent in BD patients than in healthy controls (36% versus 21%). Moreover, STAT3 rs1053005 minor C allele was significantly associated with severe ocular lesions in BD (OR = 2.76, 95%CI = 1.54-4.94, P

conclusionsSTAT3 rs1053004 and rs1053005 polymorphisms and G-C haplotype are associated with BD risk in our study cohort. The A-C haplotype was significantly associated with severe ocular lesions in BD. Studies in large sample sizes are required to verify and extend these findings. Key points • STAT3 rs1053005 CC genotype is associated with BD susceptibility. • STAT3 rs1053005 C allele is associated with severe ocular manifestations in BD. • The AC haplotype is associated with severe ocular manifestations in BD.

Indexed as

Behcet SyndromeSTAT3 Transcription FactorAdultAllelesCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideTunisiaSTAT3 protein, humanSTAT3 Transcription FactorBehçet’s diseaseMutagenically separated polymerase chain reactionOcular lesionsRs1053004Rs1053005Signal transducer and activator of transcription-3 (STAT3)

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