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Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome
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Marèa Peralta López
Veröffentlicht/Copyright:
24. Mai 2011
Abstract
Background: Turner syndrome (TS) patients present low bone mineral density (BMD) and increased fracture risk, probably due to a genetic defect aggravated by hormonal deficiency.
Aim: To study the relationship between vitamin D receptor (VDR) gene polymorphisms and BMD and bone parameters in TS patients.
Methods: DNA from 65 TS patients and 110 controls was amplified by PCR and digested with Fok I, Bsm I and Apa I restrictases. Lumbar and femoral BMD were determined by DEXA and serum intact parathyroid hormone, osteocalcin and β-CrossLaps by electrochemiluminescence.
Results: Genotype distribution within the Apa I site was different in both groups: genotype Aa was more abundant in TS (63.8% vs. 41.3%; p<0.01), whereas AA predominated in controls (33.9% vs. 15.5%; p<0.01). Patients carrying genotype bb (Bsm I) or ff (Fok I) had lower BMD than those with other genotypes (p<0.01 and p<0.05, respectively).
Conclusion: Bsm I and Fok I polymorphic sites of VDR could be genetic determinants of BMD in TS patients.
Published Online: 2011-05-24
Published in Print: 2011-06-01
©2011 by Walter de Gruyter Berlin Boston
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Schlagwörter für diesen Artikel
bone mineral density;
genotypes;
karyotypes;
Turner syndrome;
vitamin D receptor
Artikel in diesem Heft
- Publisher's Note
- Publisher's Note
- Editorial
- The damage caused by incomplete and uncontrolled medical information
- Images in Pediatric Endocrinology
- Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra
- Original Contributions
- Are adolescent weight-related problems and general well-being essentially an issue of age, gender or rather a pubertal timing issue?
- Comparison of methimazole and propylthiouracil in the management of children and adolescents with Graves’ disease: efficacy and adverse reactions during initial treatment and long-term outcome
- The effect of glucocorticoid replacement therapy on bone mineral density in children with congenital adrenal hyperplasia
- Treatment of symptomatic osteoporosis in children: a comparison of two pamidronate dosage regimens
- Stanozolol regulates proliferation of growth plate chondrocytes via activation of ERα in GnRHa-treated adolescent rats
- A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy
- The role of metabolic syndrome components and adipokines in insulin resistance in prepubertal children
- A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones
- Causes and patterns of referral to a tertiary, multidisciplinary program for the treatment of childhood obesity
- Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome
- Plasma leptin and adiponectin concentrations in healthy, non-obese children
- Puberty and pubertal growth dynamics in children with idiopathic short stature
- Endocrine complications following pediatric bone marrow transplantation
- Rare hypertension as a result of 17α-hydroxylase deficiency
- Girls with early puberty attain a near-final height similar to their target height
- Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine
- Benign transient hyperphosphatasemia in infants and children: a prospective cohort
- The relation between 25-hydroxyvitamin D with peak bone mineral density and body composition in healthy young adults
- Childhood obesity: evidence of an association between plasminogen activator inhibitor-1 levels and visceral adiposity
- Glargine basal-bolus insulin regimen versus insulin pump therapy: comparison of glycemic control
- Patient Report Letters
- A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus
- HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
- A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene
- Hyperthyroidism presenting with hyperglycemia in an adolescent female
- Short Communications
- A single base-pair deletion in the WFS1 gene causes Wolfram syndrome
- Growth suppression caused by corticosteroid eye drops
- Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
- Letter to the Editor
- Meetings
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