Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study

Paraskevi Chairta, Savvas Psarelis, Kyriaki Michailidou, Christiana Demetriou, Sofia Symeonidou, Paschalis Nicolaou, Kyproula Christodoulou

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Background: Systemic Sclerosis (SSc), also known as scleroderma, is an autoimmune rheumatic disease, which is clinically subdivided into two major subgroups; limited (lcSSc) and diffuse cutaneous scleroderma (dcSSc). Even though the SSc etiologies remains unclear, some HLA and non-HLA genetic variants have been associated with the disease. Aim: This study was designed to evaluate the associations between several HLA-related genetic variants and SSc in the Greek-Cypriot population. Methods: Forty-one SSc patients and 164 controls were genotyped at 18 selected single nucleotide polymorphisms (SNPs) using restriction fragment length polymorphism analyses, Sanger sequencing, and a multiplex SNaPshot minisequencing assay. Logistic regression analysis under the log-additive model was used to evaluate all possible associations between these SNPs and SSc; nominal statistical significance was assumed at p < 0.05. Results: Associations of SSc with SNPs rs3117230, rs3128930, and rs3128965 within the HLA-DPB1 and HLA-DPB2 regions were observed in the Greek-Cypriot population at the level of p < 0.05. However, none of these associations survived a Bonferroni correction. The direction of the effect is consistent with the direction reported in previous studies. In addition, allele frequencies of the majority of the selected SNPs in the Greek-Cypriot population are similar to those reported in the European population. Conclusion: This study initiates the genetic investigation of SSc in the Greek-Cypriot population, a relatively small newly investigated population. Further investigation with a larger sample size and/or additional SSc susceptibility loci may confirm the association of some of these variants with SSc in the Greek-Cypriot population that could potentially be used for predictive testing.

    Original languageEnglish
    Pages (from-to)309-317
    Number of pages9
    JournalGenetic Testing and Molecular Biomarkers
    Volume24
    Issue number5
    DOIs
    Publication statusPublished - May 2020

    Keywords

    • Autoimmunity
    • Population study
    • Susceptibility loci
    • Systemic sclerosis

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