Abstract
Osteoporosis remains an important cause of morbidity in β-thalassemia major. Although several factors have been implicated to play an important role in the pathogenesis of osteoporosis and several candidate gene polymorphisms have been found to regulate this process, its pathogenesis has not been completely elucidated. Deletion of a C in the fourth intron sequence 8 base before exon 5 (713-8delC) of transforming growth factor beta 1 (TGF-β1) gene which has been reported significantly higher in the osteoporotic group was studied for its prevalence and association with bone mineral density (BMD) in thalassemia major patients. The aim of this study was to find out the distribution of TGF-β1 (713-8delC) sequence variation and its relationship with BMD in thalassemia major patients. 713-8delC Sequence variation polymorphism was detected in 150 β-thalassemia major patients and their BMD was measured by dual-energy X-ray absorptiometry. Biochemical levels were estimated by enzyme-linked immunosorbent assay. We have found a remarkable incidence (90%) of osteopenia and osteoporosis among regularly transfused patients. We have found no association of 713-8delC variant of TGF-β1 gene with Z-score of BMD at lumbar spine (p = 0.061) and hips (p = 0.773). However, Cc genotype of TGF-β1 gene was found as a risk factor (odds ratio: 3.3) for low bone density in these patients.
| Original language | English |
|---|---|
| Pages (from-to) | 185-189 |
| Number of pages | 5 |
| Journal | Journal of Clinical Densitometry |
| Volume | 17 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 01-2014 |
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All Science Journal Classification (ASJC) codes
- Radiology Nuclear Medicine and imaging
- Orthopedics and Sports Medicine
- Endocrinology, Diabetes and Metabolism
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A sequence variation : 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients. / Singh, Kritanjali; Agarwal, Sarita; Shukla, Anju; Gupta, Sushil.
In: Journal of Clinical Densitometry, Vol. 17, No. 1, 01.2014, p. 185-189.Research output: Contribution to journal › Article
TY - JOUR
T1 - A sequence variation
T2 - 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients
AU - Singh, Kritanjali
AU - Agarwal, Sarita
AU - Shukla, Anju
AU - Gupta, Sushil
PY - 2014/1
Y1 - 2014/1
N2 - Osteoporosis remains an important cause of morbidity in β-thalassemia major. Although several factors have been implicated to play an important role in the pathogenesis of osteoporosis and several candidate gene polymorphisms have been found to regulate this process, its pathogenesis has not been completely elucidated. Deletion of a C in the fourth intron sequence 8 base before exon 5 (713-8delC) of transforming growth factor beta 1 (TGF-β1) gene which has been reported significantly higher in the osteoporotic group was studied for its prevalence and association with bone mineral density (BMD) in thalassemia major patients. The aim of this study was to find out the distribution of TGF-β1 (713-8delC) sequence variation and its relationship with BMD in thalassemia major patients. 713-8delC Sequence variation polymorphism was detected in 150 β-thalassemia major patients and their BMD was measured by dual-energy X-ray absorptiometry. Biochemical levels were estimated by enzyme-linked immunosorbent assay. We have found a remarkable incidence (90%) of osteopenia and osteoporosis among regularly transfused patients. We have found no association of 713-8delC variant of TGF-β1 gene with Z-score of BMD at lumbar spine (p = 0.061) and hips (p = 0.773). However, Cc genotype of TGF-β1 gene was found as a risk factor (odds ratio: 3.3) for low bone density in these patients.
AB - Osteoporosis remains an important cause of morbidity in β-thalassemia major. Although several factors have been implicated to play an important role in the pathogenesis of osteoporosis and several candidate gene polymorphisms have been found to regulate this process, its pathogenesis has not been completely elucidated. Deletion of a C in the fourth intron sequence 8 base before exon 5 (713-8delC) of transforming growth factor beta 1 (TGF-β1) gene which has been reported significantly higher in the osteoporotic group was studied for its prevalence and association with bone mineral density (BMD) in thalassemia major patients. The aim of this study was to find out the distribution of TGF-β1 (713-8delC) sequence variation and its relationship with BMD in thalassemia major patients. 713-8delC Sequence variation polymorphism was detected in 150 β-thalassemia major patients and their BMD was measured by dual-energy X-ray absorptiometry. Biochemical levels were estimated by enzyme-linked immunosorbent assay. We have found a remarkable incidence (90%) of osteopenia and osteoporosis among regularly transfused patients. We have found no association of 713-8delC variant of TGF-β1 gene with Z-score of BMD at lumbar spine (p = 0.061) and hips (p = 0.773). However, Cc genotype of TGF-β1 gene was found as a risk factor (odds ratio: 3.3) for low bone density in these patients.
UR - http://www.scopus.com/inward/record.url?scp=84895045141&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84895045141&partnerID=8YFLogxK
U2 - 10.1016/j.jocd.2013.04.004
DO - 10.1016/j.jocd.2013.04.004
M3 - Article
VL - 17
SP - 185
EP - 189
JO - Journal of Clinical Densitometry
JF - Journal of Clinical Densitometry
SN - 1094-6950
IS - 1
ER -