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FOXP 3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population
Author(s) -
Cekin Nilgun,
Pinarbasi Ergun,
Bildirici Aslıhan Esra,
Donmez Gonca,
Oztemur Zekeriya,
Bulut Okay,
Arslan Serdal
Publication year - 2018
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13337
Subject(s) - snp , medicine , osteoarthritis , allele , genotype , turkish population , single nucleotide polymorphism , gene , genetics , promoter , biology , gene expression , pathology , alternative medicine
Aim Functional polymorphisms located in FOXP 3 intron 1 was recently found to be associated with rheumatoid arthritis ( RA ). Although RA is an autoimmune disease, there is supporting evidence that activated maladaptive responses including pro‐inflammatory pathways play roles in osteoarthritis ( OA ), similar to RA . The aim of this study was to explore the relationship between rs2232365 (‐924A/G) and rs3761548 (‐3279A/C) polymorphisms as well as possible changes in the 600 bp promoter region of FOXP 3 and knee OA . Methods Patients with primary knee OA ( n = 300) and healthy individuals ( n = 300) were examined for rs3761548 and rs2232365 FOXP 3 gene polymorphisms by the polymerase chain reaction–restriction fragment‐length polymorphism method. The 600 bp promoter region (between −500 and +100) of the gene was also sequenced with direct sequencing in 50 knee OA patients and 50 healthy individuals. Results There were no sequence variants in the promoter region tested both in OA patients and healthy controls. The SNP rs2232365 showed no association with OA susceptibility and severity and the results of other genetic models were also nonsignificant. On the other hand, rs3761548 AC ( P = 0.003), AA + CC ( P = 0.0014) as well as AC + AA ( P = 0.40) genotypes showed association with Grade 4 knee OA patients. Conclusion Our findings indicated that the association between FOXP 3 rs2232365 polymorphism and knee OA tended to yield negative results but the FOXP 3 rs3761548 C allele was associated with elevated risk of OA in Grade 4 knee OA patients in a Turkish population.