Τίτλος:
Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objectives: Several rheumatoid arthritis (RA) susceptibility loci have also been found to be associated with psoriatic arthritis (PsA), demonstrating that there is a degree of genetic overlap between various autoimmune diseases. We sought to investigate whether single nucleotide polymorphisms (SNPs) mapping to previously reported RA and/or PsA susceptibility loci, including PLCL2, CCL21, REL, STAT4, CD226, PTPN22, and TYK2, are associated with risk for the two diseases in a genetically homogeneous Greek population. Method: This study included 392 RA patients, 126 PsA patients, and 521 healthy age- and sex-matched controls from Greece. Genotyping of the SNPs was performed with Taqman primer/probe sets. Bioinformatic analysis was performed using BlastP, PyMOL, and Maestro and Desmond. Results: A significant association was detected between the GC genotype of rs34536443 (TYK2) in both the PsA and RA cohorts. The C allele of this SNP was associated with PsA only. Evidence for association with PsA was also found for the GG genotype and G allele of the rs10181656 SNP of STAT4. The TC genotype of the rs763361 SNP of CD226 was associated with PsA only. Conclusions: Genetic overlap between PsA and RA was detected for the rs34536443 SNP of the TYK2 gene within a Greek population. An association of STAT4 (rs10181656) with PsA was confirmed whereas CD226 (rs763361) was associated with PsA but not with RA, in contrast to previous reports. The different findings of this study compared to previous ones highlights the importance of comparative studies that include various ethnic or racial populations. © 2017 Informa Healthcare on license from Scandinavian Rheumatology Research Foundation.
Συγγραφείς:
Myrthianou, E.
Zervou, M.I.
Budu-Aggrey, A.
Eliopoulos, E.
Kardassis, D.
Boumpas, D.T.
Kougkas, N.
Barton, A.
Sidiropoulos, P.
Goulielmos, G.N.
Περιοδικό:
Scandinavian Journal of Rheumatology
Εκδότης:
Taylor and Francis Ltd.
Λέξεις-κλειδιά:
CCL21 protein; CD226 protein; DNA; non receptor protein tyrosine phosphatase 22; peroxisome proliferator activated receptor; PLCL2 protein; protein; protein kinase TYK2; STAT4 protein; transcription factor PAX4; transcription factor Rel; unclassified drug; ZNF99 protein; CCL21 protein, human; CD226 antigen; non receptor protein tyrosine phosphatase 22; oncoprotein; PLCL2 protein, human; protein kinase TYK2; PTPN22 protein, human; secondary lymphoid tissue chemokine; signal peptide; STAT4 protein; STAT4 protein, human; T lymphocyte antigen; TYK2 protein, human, adult; amino acid sequence; Article; binding site; case control study; chemical structure; cohort analysis; comparative study; conformational transition; controlled study; DNA sequence; female; gene frequency; gene locus; genetic risk; genotype; Greece; human; major clinical study; male; middle aged; priority journal; psoriatic arthritis; rheumatoid arthritis; sequence analysis; single nucleotide polymorphism; aged; allele; Caucasian; genetic predisposition; genetics; genotyping technique; molecular model; psoriatic arthritis; rheumatoid arthritis, Adult; Aged; Alleles; Antigens, Differentiation, T-Lymphocyte; Arthritis, Psoriatic; Arthritis, Rheumatoid; Case-Control Studies; Chemokine CCL21; Cohort Studies; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genotype; Genotyping Techniques; Greece; Humans; Intracellular Signaling Peptides and Proteins; Male; Middle Aged; Models, Molecular; Oncogene Proteins v-rel; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 22; STAT4 Transcription Factor; TYK2 Kinase
DOI:
10.1080/03009742.2016.1199734
