title: A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients.
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.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Kritanjali
authors.initials: K
authors.lastname: Singh
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. Electronic address: sarita@sgpgi.ac.in.
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Endocrinology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Sushil
authors.initials: S
authors.lastname: Gupta
mesh_terms: D015502:Absorptiometry, Photon; D000293:Adolescent; D001803:Blood Transfusion; D015519:Bone Density / Q000235:genetics*; D002648:Child; D005260:Female; D005269:Femur; D006801:Humans; D007194:India; D008159:Lumbar Vertebrae; D008297:Male; D010024:Osteoporosis / Q000453:epidemiology*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011884:Radius; D017384:Sequence Deletion / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D044465:White People; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy
chemical_list: D053773:Transforming Growth Factor beta1
keywords: BMD; DXA; PTH