Evidence map›Paper›PMID 40931287›Full record

ArticleClinical rheumatology2025

HLA polymorphisms in South Tunisian systemic sclerosis patients: a case-control study.

Aida Charfi, Raida Ben Salah, Olfa Frikha, Nadia Mahfoudh, Arwa Kamoun, Yosra Bouattour, Lilia Gaddour, Feiza Hakim, Zouhir Bahloul, Hafedh Makni

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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. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Aida CharfiHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Raida Ben SalahDepartment of Internal Medicine, Hedi Chaker UH, University of Sfax, Sfax, Tunisia. raidabensalah@yahoo.fr.ORCID http://orcid.org/0000-0002-0406-3418
Olfa FrikhaDepartment of Internal Medicine, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Nadia MahfoudhHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Arwa KamounHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Yosra BouattourDepartment of Internal Medicine, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Lilia GaddourHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Feiza HakimHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Zouhir BahloulDepartment of Internal Medicine, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.
Hafedh MakniHistocompatibility Department, Hedi Chaker UH, University of Sfax, Sfax, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveSystemic sclerosis (SSc) is a complex autoimmune connective tissue disease. Genetic factors may play a pivotal role in determining susceptibility to these disorders. HLA associations with SSc, especially HLA class II, were investigated in different populations but not in Tunisia. Our aim was to study HLA profile in South Tunisian patients with SSc.

methodsWe conducted a case-control study on 19 SSc patients and 123 healthy controls. HLA class I (HLA-A and -B) typing was performed using a microlymphocytotoxicity complement-dependent technique followed by polymerase chain reaction sequence specific primer (PCR-SSP). HLA class II DRB1/DQB1 of all patients and controls was genotyped using the PCR-SSP technique. Statistical analysis was performed using SPSS software and R language.

resultsNineteen SSc patients and 123 healthy controls were included. The HLA-DRB1*11 was associated with the genetic susceptibility to SSc (corrected p-value (pc) = 0.005; OR = 5.56; 95% CI = [2-15.4]). The HLA-DQB1*03:01 had also increased the risk of SSc in our study (pc = 0.002; OR = 5.9; 95% CI = [2-16.8]). Concerning HLA class I typing, we found a significant association between HLA-B53 and SSc (pc = 0.01; OR = 9; 95% CI = [2.53-31.99]). The association of HLA-B53 was independent of HLA-DRB1*11 in binary logistic regression test (HLA-B53: p = 0.01; HLA-DRB1*11: p = 0.008). Concerning the haplotype study, a significant difference in the distribution of the haplotype B53-DRB1*11 was found between patients and controls (13.15% in SSc patients vs. 0.8% in controls; p = 1.33 10

conclusionOur results showed that in South Tunisia SSc is associated with HLA-DRB1*11 and DQB1*03:01 alleles. A susceptibility to SSc was found in positive HLA-B53 patients. This association of HLA alleles with SSc needs further study. Key Points •HLA-DR and DQ alleles represent the most common associations reported in Systemic Sclerosis (SSc). •In this study, in addition to the known association with HLA-DRB1*11, we identified an association with HLA-B53 in a cohort of 19 South Tunisian patients.

Indexed as

HLA-DQ beta-ChainsHLA-DRB1 ChainsPolymorphism, GeneticScleroderma, SystemicAdultAgedAllelesCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHaplotypesHumansMaleMiddle AgedHLA-DQB1 antigenHLA-DQ beta-ChainsHLA-DRB1 ChainsDiffuse systemic sclerosisDisease susceptibilityHLALimited systemic sclerosisSystemic sclerosis

Identifiers

PMID40931287

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.