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Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet’s disease

  • Original Article - Genes and Disease
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Abstract

There are evidences that besides geographic tendency, interactions between genetic and environmental factors play an essential role in the pathogenesis of Behçet’s disease (BD). In this study, we have evaluated the associations between rs4810485 and rs1883832 single nucleotide polymorphism (SNP)s of CD40 gene with the susceptibility and clinical findings of BD. Two hundred and eighty-five patients with BD and 225 age-matched healthy controls were enrolled in this study. The clinical findings of patients were noted. The distributions of genotypes, alleles, combined genotypes and haplotypes of these two SNPs in BD patients were compared with those in healthy controls. In further evaluation, we evaluated the patients with and without any of clinical findings with regarding to distribution of genotypes and alleles of these two SNPs. There was no significant difference concerning frequencies of genotypes, alleles, combined genotypes and haplotypes of rs4810485 and rs1883832 between patients and controls (p > 0.05 for all). Frequency of GT genotype of CD40 rs4810485 polymorphism was found to be significantly higher in patients with skin lesions (p < 0.05, OR 1.65, 95 % CI 1.02–2.64). Also, we have found significantly higher frequencies of CC genotype and C allele of CD40 rs1883832 polymorphism in patients with genital ulcers (p < 0.05 for both, OR 2.30, 95 % CI 1.07–4.94 and OR 1.78, 95 % CI 1.06–2.97, respectively). However, these significances were disappeared after Bonferroni correction. We suggest that differences in the expression levels of CD40 because of different genotypes of these two SNPs may take part in the development of skin lesions or genital ulcers in patients with BD.

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The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Süleyman Demirel University, Isparta, Turkey

    Esra Erkol İnal

  2. Department of Medical Biology, Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey

    Aydın Rüstemoğlu, Duygu Ekinci, Serbülent Yiğit & Ömer Ateş

  3. Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey

    Ahmet İnanır

  4. Department of Dermatology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Ülker Gül

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  1. Esra Erkol İnal
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İnal, E.E., Rüstemoğlu, A., İnanır, A. et al. Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet’s disease. Rheumatol Int 35, 837–843 (2015). https://doi.org/10.1007/s00296-014-3171-3

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  • DOI: https://doi.org/10.1007/s00296-014-3171-3

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