TY - JOUR
T1 - Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population
T2 - A Pilot Study
AU - Chairta, Paraskevi
AU - Psarelis, Savvas
AU - Michailidou, Kyriaki
AU - Demetriou, Christiana
AU - Symeonidou, Sofia
AU - Nicolaou, Paschalis
AU - Christodoulou, Kyproula
N1 - Funding Information:
This study has been financially supported by the Cyprus Institute of Neurology and Genetics and the Cyprus School of Molecular Medicine.
Publisher Copyright:
© Paraskevi Chairta et al., 2020; Published by Mary Ann Liebert, Inc. 2020.
PY - 2020/5
Y1 - 2020/5
N2 - 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.
AB - 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.
KW - Autoimmunity
KW - Population study
KW - Susceptibility loci
KW - Systemic sclerosis
UR - http://www.scopus.com/inward/record.url?scp=85084720705&partnerID=8YFLogxK
U2 - 10.1089/gtmb.2019.0255
DO - 10.1089/gtmb.2019.0255
M3 - Article
C2 - 32315557
AN - SCOPUS:85084720705
SN - 1945-0265
VL - 24
SP - 309
EP - 317
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
IS - 5
ER -