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. 2020 Nov;8(11):e1476.
doi: 10.1002/mgg3.1476. Epub 2020 Sep 1.

Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus

Olfa Abida  1 , Emna Bahloul  2 , Mariem Ben Jmaa  1 , Khadija Sellami  2 , Ferjani Zouidi  1 , Raouia Fakhfakh  1 , Nadia Mahfoudh  3 , Hamida Turki  2 , Hatem Masmoudi  1
Affiliations

Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus

Olfa Abida et al. Mol Genet Genomic Med. 2020 Nov.

Abstract

Background: Several studies have suggested that polymorphisms within genes encoding T-lymphocyte immune regulating molecules: CD28, CTLA-4, and ICOS, may alter the signaling process and subsequently could be involved in susceptibility to a broad spectrum of autoimmune diseases.

Methods: This study aimed to replicate associations between common polymorphisms in the 2q33.2 cluster and susceptibility to pemphigus foliaceus (PF) in the Tunisian population. We investigated seven polymorphisms: rs3116496 and rs1879877 (CD28), rs231775, rs3087243, and (AT)n repeat (CTLA4); rs11889031 and rs10932029 (ICOS) in a case-control study which enrolled 106 Tunisian PF patients and 205 matched healthy controls.

Results: We confirmed the associations with CTLA4((AT)13 , p = 0.00137, OR = 3.96 and (AT)20 , p = 0.008, OR = 5.22; respectively) and ICOS genes (rs10932029>CT, p = 0.034, OR = 2.12 and rs10932029>TT, p = 0.04 and OR = 0.41).

Conclusion: Our results indicate that susceptibility to PF is located in the proximal and the distal 3' flanking region of the CTLA4/ICOS promoter. These findings may open avenues to the treatment of patients with biological drugs targeting CTLA4/ICOS molecules, in a personalized manner to achieve more effective treatment.

Keywords: 2q33 polymorphisms; Tunisia; genetic susceptibility; pemphigus foliaceus.

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Conflict of interest statement

The authors disclose any conflict of interest.

Figures

FIGURE 1
FIGURE 1
Overview and linkage disequilibrium (LD) on chromosome 2q33.2. Schematic structure of the 2q33.2 chromosome region CD28 gene (NG_029618.1), ICOS gene (NG_011586.1) and CTLA4 gene (NG_011502.1) (a). Exons are depicted by black vertical lines. The positions of the seven polymorphisms are shown by the arrows. LD prime charts generated using SHEsis software summarize LD (D′) patterns among endemic (b) and sporadic (c) patient’s groups. D′ > 0.7 is considered as a high value of LD
See this image and copyright information in PMC

References

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