Literature DB >> 11972530

Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia.

Mara Ferrara1, Sofia M R Matarese, Matteo Francese, Barbara Borrelli, Antonietta Coppola, Lina Coppola, Luigi Esposito.   

Abstract

We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in beta thalassaemia.

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Year:  2002        PMID: 11972530     DOI: 10.1046/j.1365-2141.2002.03426.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


  10 in total

1.  A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major.

Authors:  M Dimitriadou; A Christoforidis; L Fidani; M Economou; E Vlachaki; M Athanassiou-Metaxa; G Katzos
Journal:  Osteoporos Int       Date:  2015-08-15       Impact factor: 4.507

Review 2.  Fracture prevalence in thalassemia: a systematic review and meta-analysis.

Authors:  Nipith Charoenngam; Thanitsara Rittiphairoj; Ben Ponvilawan
Journal:  Arch Osteoporos       Date:  2021-11-13       Impact factor: 2.617

3.  Vitamin D receptor gene polymorphisms are linked to and associated with adult height.

Authors:  D-H Xiong; F-H Xu; P-Y Liu; H Shen; J-R Long; L Elze; R R Recker; H-W Deng
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

4.  Vitamin D Receptor (VDR) Gene Polymorphisms (FokI, BsmI) and their Relation to Vitamin D Status in Pediatrics βeta Thalassemia Major.

Authors:  Shereen Mohamed Elhoseiny; Dalia Saber Morgan; Asmaa Mohamed Rabie; Samer Tharwat Bishay
Journal:  Indian J Hematol Blood Transfus       Date:  2015-05-19       Impact factor: 0.900

Review 5.  Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management.

Authors:  Samir K Ballas; Muge R Kesen; Morton F Goldberg; Gerard A Lutty; Carlton Dampier; Ifeyinwa Osunkwo; Winfred C Wang; Carolyn Hoppe; Ward Hagar; Deepika S Darbari; Punam Malik
Journal:  ScientificWorldJournal       Date:  2012-08-01

6.  Presentation, heritability, and genome-wide linkage analysis of the midchildhood growth spurt in healthy children from the Fels Longitudinal Study.

Authors:  Bradford Towne; Kimberly D Williams; John Blangero; Stefan A Czerwinski; Ellen W Demerath; Ramzi W Nahhas; Thomas D Dyer; Shelley A Cole; Miryoung Lee; Audrey C Choh; Dana L Duren; Richard J Sherwood; William Cameron Chumlea; Roger M Siervogel
Journal:  Hum Biol       Date:  2008-12       Impact factor: 0.553

7.  Physiopathology of Bone Modifications in β-Thalassemia.

Authors:  Carlo Perisano; Emanuele Marzetti; Maria Silvia Spinelli; Cinzia Anna Maria Callà; Calogero Graci; Giulio Maccauro
Journal:  Anemia       Date:  2012-05-30

Review 8.  Vitamin d status in thalassemia major: an update.

Authors:  Ashraf Soliman; Vincenzo De Sanctis; Mohamed Yassin
Journal:  Mediterr J Hematol Infect Dis       Date:  2013-09-02       Impact factor: 2.576

9.  Evaluation of Glutathione-S-Transferase P1 Polymorphism and its Relation to Bone Mineral Density in Egyptian Children and Adolescents with Beta-Thalassemia Major.

Authors:  Seham M Ragab; Eman A Badr; Ahmed S Ibrahim
Journal:  Mediterr J Hematol Infect Dis       Date:  2016-01-01       Impact factor: 2.576

10.  Bone Mineral Density and Vitamin D Receptor Genetic Variants in Egyptian Children with Beta Thalassemia Major on Vitamin D Supplementation.

Authors:  Hadeer A Abbassy; Reham A Abo Elwafa; Omneya M Omar
Journal:  Mediterr J Hematol Infect Dis       Date:  2019-01-01       Impact factor: 2.576

  10 in total

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