Association of STAT4 rs7574865 and PTPN22 rs2476601 polymorphisms with rheumatoid arthritis and non-systemically reacting antibodies in Egyptian patients
| Autor: | Asmaa M. Mohammed, Dalia El-Lebedy, Alshaymaa A. Ibrahim, Hala M. Raslan, Shereen Hamdy Abd Elaziz, Ingy Ashmawy |
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| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Adult Male Polymorphism Single Nucleotide Severity of Illness Index PTPN22 Arthritis Rheumatoid 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Rheumatology Gene Frequency immune system diseases Polymorphism (computer science) Rheumatoid Factor Genotype medicine Rheumatoid factor Humans Genetic Predisposition to Disease Allele skin and connective tissue diseases STAT4 Alleles Autoantibodies 030203 arthritis & rheumatology business.industry Neopterin Protein Tyrosine Phosphatase Non-Receptor Type 22 General Medicine Middle Aged STAT4 Transcription Factor medicine.disease 030104 developmental biology Logistic Models chemistry Rheumatoid arthritis Case-Control Studies Immunology Egypt Female business |
| Zdroj: | Clinical rheumatology. 36(9) |
| ISSN: | 1434-9949 |
| Popis: | The aim of this study was to investigate association of protein tyrosine phosphatase non-receptor type 22 (PTPN22) rs2476601 and signal transducer and activator of transcription 4 (STAT4) rs7574865 polymorphisms with rheumatoid arthritis (RA) susceptibility and to assess potential association with the status of rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibodies, serum neopterin, and disease activity. RF, anti-CCP antibodies, and neopterin were assayed in serum of 100 unrelated RA patients and 114 controls. STAT4 rs7574865 G/T and PTPN22 rs2476601 C/T polymorphisms were genotyped by the TaqMan allelic discrimination method. The frequency of STAT4 variant allele was significantly higher in RA patients than in controls (p = 0.01), while the variant allele of PTPN22 was identified in only two RA patients, in a heterozygous form and in none of control subjects. The frequency of STAT4 variant allele carrier genotypes (GT+TT) was significantly higher among RA patients than in controls (43.7 vs. 10.5%, p = 0.02) and associated with RA under additive and dominant models. The frequency of RF and anti-CCP positivity was significantly higher among RA patients carrying T allele genotypes compared to patients carrying wild genotype (P = 0.02 and 0.04, respectively). No significant associations between STAT4 variant and serum neopterin or disease activity parameters were identified. Our study confirmed the association of STAT4 rs7574865 polymorphism with RA and was the first to indicate an association with RF and anti-CCP antibodies positivity. We also found PTPN22 rs2476601 has no role in susceptibility to RA in Egyptian patients. |
| Databáze: | OpenAIRE |
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