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Study of PTPN22 1858C/T polymorphism in rheumatoid arthritis patients from Western India |
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| Authors: | Vandana D. Pradhan Heba Dalvi Devraj Parsannavar Anjali Rajadhyaksha Manisha Patwardhan Kanjaksha Ghosh |
| Affiliation: | 1. Scientist, Department of Clinical & Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, King Edward Memorial Hospital, Parel, Mumbai;2. MSc Student, Department of Clinical & Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, King Edward Memorial Hospital, Parel, Mumbai;3. Scientist National Institute of Nutrition, Hyderabad, India;4. Professor and Head, Department of Medicine, King Edward Memorial Hospital, Parel, Mumbai;5. Research Assistant, Department of Clinical & Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, King Edward Memorial Hospital, Parel, Mumbai;6. Director, National Institute of Immunohae-matology, Indian Council of Medical Research, 13th floor, King Edward Memorial Hospital, Parel, Mumbai;1. Max Super Specialty Hospital, Patparganj, New Delhi, India;2. Department of Rheumatology, ISIC Superspeciality Hospital, Vasant Kunj, New Delhi, India;3. A&R Clinic, Flat 2015, Sector B-2, Vasant Kunj, New Delhi 110070, India;1. Department of Medicine, Medical College, Kolkata, India;2. Department of Medicine, Rheumatology Division, Medical College, Kolkata, India;3. Department of Preventive and Social Medicine, All India Institute of Hygiene and Public Health, Kolkata, India;1. Department of Rheumatology, Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, Odisha, India;2. Department of Pulmonary Medicine, Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, Odisha, India |
| Abstract: | BackgroundRheumatoid arthritis (RA) is an inflammatory autoimmune disorder with etiologies including genetic and environmental factors. Protein tyrosine phosphatase non-receptor type22 (PTPN22) 1858C/T polymorphism is widely suspected to be a susceptibility gene for RA in the non-HLA genes group.AimThis study aimed at determining whether PTPN22 1858C/T polymorphism is associated with RA patients from Western India and to evaluate its possible association with rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) autoantibodies.MethodsA total of 130 Indian RA patients and 100 age and sex matched normal controls were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR–RFLP) for the PTPN22 1858C/T polymorphism.ResultsRF positivity was seen among 73.8% RA patients studied and the overall incidence of anti-CCP antibodies was 86.2%. The homozygous genotype (T/T) was absent in both groups. Among RF positives, C/C homozygosity was 90.6% whereas 9.4% patients were C/T heterozygous. Among anti-CCP positives, 89.1% had C/C genotype while the remaining 10.9% have the C/T genotype. Statistically significant association was obtained between the polymorphism and anti-CCP positivity in RA patients (OR: 2.939, ‘p’ value = 0.0595).ConclusionOur study suggested that a positive autoantibody status may predispose an individual to RA. PTPN22 may act as a susceptibility gene only in certain ethnic groups and there is no direct association between PTPN22 C1858 polymorphism and RA patients from Western India. Still a larger study is needed to understand whether this polymorphism predisposes individual to disease-associated antibodies among Indian RA patients. |
| Keywords: | Rheumatoid factor Anti-CCP antibodies Non-HLA gene polymorphism |
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