71
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      The effect of FokI vitamin D receptor polymorphism on bone mineral density in Jordanian perimenopausal women

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          CONTEXT:

          Osteoporosis is a polygenic, multifactorial disease that is characterized by demineralization of bone, and thus presented with decreasing bone mineral mass. Vitamin D receptor (VDR) gene polymorphisms in the 3’-end region (as determined by the enzymes BsmI and ApaI) have been inconsistently associated with bone mineral mass. Another important VDR start codon polymorphism (as determined by the enzyme FokI) has been found to be related to adult bone mineral density (BMD) in pre-and post-menopausal American women.

          AIMS:

          This study aims to investigate the prevalence of the FokI VDR gene polymorphism in Jordanian perimenopausal women and study its relationship with bone mineral density.

          MATERIALS AND METHODS:

          DNA was isolated from 90 controls (Mean age = 50.41 ± 1.29 y), and 120 patients with symptomatic vertebral fractures (Mean age = 49.14 ± 3.19 y). Restriction Fragment Length Polymorphism (RFLP) analysis of FokI was performed on DNA samples.

          STATISTICAL ANALYSIS:

          Data was analyzed using SPSS v19 and Microsoft Excel 2007.

          RESULTS:

          The results showed that in controls, the FF (−0.70 ± 0.51) genotype is associated with high lumbar spine BMD Z-score as compared to Ff (−1.25 ± 0.26) and ff (−1.66 ± 0.47) genotypes ( P = 0.0095). In patients, the ff genotype was associated with lower lumbar spine BMD in T-score (−2.31 ± 0.17) and Z-score (−1.56 ± 0.09) genotypes ( P = 0.031). No significant association was seen in the femoral neck BMD.

          CONCLUSION:

          FokI polymorphism may be associated with low BMD in our studied population; however, further studies including other polymorphisms and large sample number are needed.

          Related collections

          Most cited references38

          • Record: found
          • Abstract: found
          • Article: not found

          A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women.

          The effect of a T-C transition polymorphism at the translation initiation codon of the human vitamin D receptor (VDR) gene on the biological function of the encoded protein was investigated. Of 239 Japanese women volunteers subjected to genotype analysis for this polymorphism, 32 (13%) were genotype MM (the M allele is ATG at the putative translation start site), 75 (31%) were genotype mm (the m allele is ACG at the putative translation start site), and 132 (55%) were genotype Mm. The bone mineral density (BMD) in the lumbar spine (L2-L4) was determined for 110 healthy premenopausal women from the volunteers and was shown to be 12.0% greater (p < 0.05) for mm homozygotes than for MM homozygotes. Synthesis of the proteins by the M and m alleles from the cloned cDNAs in vitro and in transfected COS-7 cells revealed them to have a size of 50 and 49.5 kD, respectively, as determined by sodium dodecyl sulfate polyacrylamide gel electrophoresis. This size difference is consistent with initiation of translation of the M allele-encoded protein from an ATG codon located at nucleotides +10 to +12 in the conventional open reading frame. The extent of vitamin D-dependent transcriptional activation of a reporter construct under the control of a vitamin D response element in transfected HeLa cells was approximately 1.7-fold greater for the m type VDR than for the M type protein. These results suggest that the polymorphism at the translation start site of the VDR gene may modulate BMD in premenopausal Japanese women.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Genetics of osteoporosis.

            Osteoporosis is a common disease with a strong genetic component characterized by reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of fragility fractures. Twin and family studies have shown high heritability of bone mineral density (BMD) and other determinants of fracture risk such as ultrasound properties of bone, skeletal geometry, and bone turnover. Osteoporotic fractures also have a heritable component, but this reduces with age as environmental factors such as risk of falling come into play. Susceptibility to osteoporosis is governed by many different genetic variants and their interaction with environmental factors such as diet and exercise. Notable successes in identification of genes that regulate BMD have come from the study of rare Mendelian bone diseases characterized by major abnormalities of bone mass where variants of large effect size are operative. Genome-wide association studies have also identified common genetic variants of small effect size that contribute to regulation of BMD and fracture risk in the general population. In many cases, the loci and genes identified by these studies had not previously been suspected to play a role in bone metabolism. Although there has been extensive progress in identifying the genes and loci that contribute to the regulation of BMD and fracture over the past 15 yr, most of the genetic variants that regulate these phenotypes remain to be discovered.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Genetic determinants of bone mass in adults. A twin study.

              The relative importance of genetic factors in determining bone mass in different parts of the skeleton is poorly understood. Lumbar spine and proximal femur bone mineral density and forearm bone mineral content were measured by photon absorptiometry in 38 monozygotic and 27 dizygotic twin pairs. Bone mineral density was significantly more highly correlated in monozygotic than in dizygotic twins for the spine and proximal femur and in the forearm of premenopausal twin pairs, which is consistent with significant genetic contributions to bone mass at all these sites. The lesser genetic contribution to proximal femur and distal forearm bone mass compared with the spine suggests that environmental factors are of greater importance in the aetiology of osteopenia of the hip and wrist. This is the first demonstration of a genetic contribution to bone mass of the spine and proximal femur in adults and confirms similar findings of the forearm. Furthermore, bivariate analysis suggested that a single gene or set of genes determines bone mass at all sites.
                Bookmark

                Author and article information

                Journal
                Indian J Hum Genet
                Indian J Hum Genet
                IJHG
                Indian Journal of Human Genetics
                Medknow Publications & Media Pvt Ltd (India )
                0971-6866
                1998-362X
                Apr-Jun 2013
                : 19
                : 2
                : 233-238
                Affiliations
                [1]Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan
                Author notes
                Address for correspondence: Dr. Raed M. Kanan, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City – Riyadh, National Guard Health Affairs, Mail Code: 3129, P.O. Box 22490, Riyadh-11426, Saudi Arabia. E-mail: kananr@ 123456ksau-hs.edu.sa
                Article
                IJHG-19-233
                10.4103/0971-6866.116125
                3758732
                24019627
                81aefeae-3729-45a3-ae18-9cd37c2df72c
                Copyright: © Indian Journal of Human Genetics

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Original Article

                Genetics
                dbsnp rs10735810,jordan,osteoporosis,vitamin d receptor
                Genetics
                dbsnp rs10735810, jordan, osteoporosis, vitamin d receptor

                Comments

                Comment on this article

                scite_
                0
                0
                0
                0
                Smart Citations
                0
                0
                0
                0
                Citing PublicationsSupportingMentioningContrasting
                View Citations

                See how this article has been cited at scite.ai

                scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

                Similar content290

                Cited by5

                Most referenced authors347