NDLI: Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Singh, Kritanjali Kumar, Ravindra Shukla, Anju Phadke, Shubha R. Agarwal, Sarita
Spatial Coverage	India
Description	Country affiliation: India Author Affiliation: Singh K ( Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.)
Abstract	BACKGROUND: Bone disease comprising of low bone mineral density (BMD), bone pain, and fractures is a characteristic feature of thalassemia. Vitamin D receptors (VDRs - FokI, TaqI, and Bsml) polymorphisms are closely related to low BMD at the lumbar spine and hips which can be used as a useful genetic marker in predicting bone disease in these patients. AIM: To find out the status of VDRs gene polymorphisms and its effect on osteoporosis in thalassemia patients of North Indian origin. MATERIAL AND METHODS: BMD was measured in 40 beta-thalassemia major patients by dual-energy X-ray densitometry (DXA). Serum vitamin D levels were estimated by enzyme linked immunosorbant assay. VDR gene polymorphisms (FokI, TaqI, and BsmI) were analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: About 80.6% cases were found to be vitamin D deficient. Z score of BMD of lumbar spine and hips were -2.31 ± 1.18 and -2.09 ± 0.89. Osteoporotic lumbar spine was observed in 42.5% cases of thalassemia. A positive correlation of vitamin D level was found with Z score of BMD of lumbar spine (r = 0.398, P value = 0.027). Polymorphisms of FokI and BsmI were found significantly correlated with BMD of lumbar spine. However, no association of BMD was observed with TaqI polymorphism. CONCLUSION: The present study showed a high prevalence of low BMD in thalassemia, suggesting that they should be targeted for DXA screening and osteoporosis prevention before permanent end organ bone damage occurs. The VDR genotyping can be used as additional test in individuals who are susceptible to osteoporosis so that early preventive measurements can be taken.
File Format	HTM / HTML
ISSN	10245332
Issue Number	5
Volume Number	17
e-ISSN	16078454
Journal	Hematology
Language	English
Publisher	Taylor & Francis
Publisher Date	2012-09-01
Publisher Place	Great Britain (UK)
Access Restriction	Subscribed
Subject Keyword	Discipline Hematology Polymorphism, Restriction Fragment Length Receptors, Calcitriol Genetics Thalassemia Epidemiology Vitamin D Deficiency Vitamin D Analogs & Derivatives Adolescent Adult Bone Density Child Female Humans India Male Osteoporosis Complications Prevention & Control Prevalence Clinical Trial Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Hematology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in