1Dr Sana Shabbir, 2Dr Gulshad Wagan, 3Dr Maria, 4Dr Sofia, 5Dr Rubina Zareen, 6Dr Amber
1Lecturer, Department of Anatomy LUMHS, Jamshoro,
2Assistant professor, Department of Anatomy Bilawal Medical College, Jamshoro
3Lecturer, Department of Biochemistry LUMHS, Jamshoro
4 Lecturer, Department of Biochemistry LUMHS, Jamshoro
5 Lecturer, Department of Physiology LUMHS Jamshoro
6 Assistant Professor, Anatomy Department Mekran Medical College Turbat Balochistan
Abstract
Background: Density of bones is a significant component of a general well-being of an individual and depends on one’s genes as well as the prevailing circumstances. Vitamin D Receptor (VDR) gene is basically involved in modulating the action of Vitamin D with regards to bone metabolism. This indicates that certain polymorphisms in the form of VDR gene contribute to variations in bone density and hence differing bone health status in human populations.
Aim: Hence this study seeks to establish the effects of the genetic polymorphisms of the VDR gene on the bone density and examine the degree of correlation between the gene polymorphisms such as FokI, BsmI, ApaI and Taq1 and bone density.
Methods: The type of study design recommended is case-control, and cross-section and cohort studies. Targets are men and women of a particular age group and +-body mass index, with no history of pathological conditions or usage of medications altering bone density. Molecular analysis was done by Polymerase Chain Reaction (PCR), Restriction Fragment Length Polymorphism (RFLP), & Sequencing. BMD analysis was done by DEXA, and QUS at both the baseline and follow-up visits. Data analysis included multiple regression analysis, ANOVA test, multivariate test, and adjustment for variables.
Results: Analysing the data, it can be stated that some polymorphisms of the VDR, namely FokI and BsmI, are frequent and affect bone density. It has also found variation in the result of the bone density between those patients who have and are not having these polymorphisms. Again, the study also showcases the pros and cons of each polymorphism The secondary analyses indicated differences in the effectiveness of the compound on issues of age, gender and Ethnicity.
Conclusion: Thus, it was found that a number of polymorphisms in the VDR gene directly affects bone density and knowledge of such personalization can play a role in proper management of bone diseases. The application of genetic screening of VDR polymorphisms into the context of clinical practice may help to identify people at risk in developing osteoporosis and other bone density disorders and prevent or control them more efficiently. It does become imperative at this stage to further study the genetic factors affecting bone health and develop better treatment strategies for patients with poor skeletal status.
Keywords: Bone Density, Vitamin D Receptor (VDR) Gene, Genetic Polymorphisms, FokI, BsmI, Personalized Medicine, Osteoporosis, Bone Health, Dual-energy X-ray Absorptiometry (DEXA), Polymerase Chain Reaction (PCR).