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Association of Vitamin D Receptor (FokI and BsmI) Gene Polymorphism with Bone Mineral Density and Their Effect on 25-Hydroxyvitamin D Level in North Indian Postmenopausal Women with Osteoporosis

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Abstract

Osteoporosis is a systemic disease with a strong genetic component. Vitamin D receptor (VDR) has been suggested as a candidate gene for osteoporosis. Therefore the present study was aimed to investigate the pattern of allelic variants of VDR gene polymorphism (FokI and BsmI), its influence on vitamin D levels and bone mineral density (BMD) in North Indian postmenopausal women with osteoporosis for possible genetic association. 254 postmenopausal osteoporotic women and 254 postmenopausal non osteoporotic women were included in the study. VDR FokI and BsmI gene polymorphism gene were assessed by the PCR-RFLP method. Serum 25-hydroxyvitamin D was measured by the ELISA. BMD at the L1–L4 lumbar spine, hip, forearm and femoral neck was assessed by dual energy X-ray absorptiometry. The average BMD at spine and hip in postmenopausal women with bb and spine, hip, femoral neck and forearm with ff genotype had significantly low BMD. The frequency of ff genotype and f allele was significantly higher in postmenopausal osteoporotic women when compared with postmenopausal non osteoporotic women. However, no significant association was found between the genotypes and vitamin D levels. Our study reveals that VDR gene FokI and BsmI polymorphism is significantly associated with low bone mineral density. Therefore the ff genotype and f allele of VDR FokI gene may be used as an important risk factor for osteoporosis.

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Acknowledgements

This work was supported by Indian Council of Medical Research (ICMR) [5/4-/5/14Ortho/2011-NCD-I].

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Authors and Affiliations

  1. Department of Biochemistry, King George’s Medical University, Lucknow, 226003, India

    Israr Ahmad & Abbas Ali Mahdi

  2. Department of Biochemistry, Era’s Lucknow Medical College and Hospital, Lucknow, 226003, India

    Israr Ahmad & Farzana Mahdi

  3. Department of Zoology, Lucknow University, Lucknow, 226007, India

    Tabrez Jafar & Md. Arshad

  4. Department of Rheumatology, King George’s Medical University, Lucknow, 226003, India

    Siddharth Kumar Das

  5. Department of Orthopedic Surgery, King George’s Medical University, Lucknow, 226003, India

    Shah Waliullah

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  1. Israr Ahmad
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Ahmad, I., Jafar, T., Mahdi, F. et al. Association of Vitamin D Receptor (FokI and BsmI) Gene Polymorphism with Bone Mineral Density and Their Effect on 25-Hydroxyvitamin D Level in North Indian Postmenopausal Women with Osteoporosis. Ind J Clin Biochem 33, 429–437 (2018). https://doi.org/10.1007/s12291-017-0706-x

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  • DOI: https://doi.org/10.1007/s12291-017-0706-x

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