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Vitamin D receptor gene polymorphism as possible risk factor in rheumatoid arthritis and rheumatoid related osteoporosis
Authors:Youssef M. Mosaad  Enas M. Hammad  Zakaria Fawzy  Ibrahim A. Abdal Aal  Hazem M. Youssef  Tamer O. ElSaid  Rehan Monir  Basem S. EL-Deek
Affiliation:1. Clinical Immunology Unit, Clinical Pathology Department, Mansoura Faculty of Medicine, Mansoura, Egypt;2. Rheumatology and Rehabilitation Department, Mansoura University Hospital, Mansoura, Egypt;3. Clinical Chemistry Unit, Clinical Pathology Department, Mansoura Faculty of Medicine, Mansoura, Egypt;4. Department of Rheumatology, Aberdeen Royal Infirmary, Aberdeen, UK;5. Medical Biochemistry Department, Mansoura Faculty of Medicine, Mansoura, Egypt;6. Community Medicine and Statistics Department, Mansoura Faculty of Medicine, Mansoura, Egypt;g Research Unit, Faculty of Medicine, King Abdul-Aziz University, Jeddah, Saudi Arabia
Abstract:

Objective

To study the role of VDR polymorphisms as risk factor for RA and osteoporosis, and whether osteoporosis complicating RA is due to RA or VDR polymorphisms.

Methods

VDR gene polymorphisms ApaI, TaqI, BsmI and FokI were typed by RFLP for 128 RA patients, 30 postmenopausal osteoporotic females and 150 healthy controls.

Results

Significant differences were found between patients and healthy controls in the frequency of BsmI and TaqI (Pc < 0.05) but no significant associations were found for FokI and ApaI polymorphisms except for aa genotype (Pc < 0.001). Titers of RF were higher with aa and bb genotypes. Anti-CCP and CRP levels were higher with aa genotype and more bone loss was associated with Bb genotype. Ff genotype frequency was higher in RA patients with osteoporosis than those without osteoporosis.

Conclusions

The ApaI, BsmI and TaqI polymorphisms may be a susceptibility risk factors for RA and the Ff genotype may be responsible for development of osteoporosis in RA Egyptian patients. However, the present study needs to be replicated in a large number of patients from allover the Egypt and also in multi-ethnic populations.
Keywords:RA, rheumatoid arthritis   VDR, vitamin D receptor   DAS-28, disease activity score 28   VAS, visual analogue scales   RARBIS, rheumatoid arthritis medical records based index of severity   DEXA, dual energy X-ray absorptiometry   BMD, bone mineral density   RFLP, restriction fragment length polymorphism   Anti-CCP, Anti-Cyclic Citrullinated Peptide   CRP, C-reactive protein   OP, osteoporosis   DMARDs, Disease Modifying Anti-Rheumatic Drugs   LD, linkage disequilibrium
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