Role of genetic pattern on bone mineral density in thalassemic patients.
OBJECTIVE
To evaluate the role of genetic background in osteoporosis/osteopenia development in beta-Thalassemia Major patients.


METHODS
The influence of VDR (FokI, BsmI) as well as COLIA1 (Sp1) gene polymorphisms on BMD was investigated in 40 patients.


RESULTS
Although the examined gene polymorphisms did not significantly affect BMD variations in our population, BsmI was found to display beneficial effects on patient response to alendronate therapy.


CONCLUSIONS
Genetic factors retain a potential role for improvement of osteoporosis management in thalassemic patients.
Gaudio
Agostino
A
Department of Internal Medicine, University of Catania, Ospedale Vittorio Emanuele, Via Plebiscito 628, 95124, Catania, Italy.
Morabito
Nancy
N
Xourafa
Anastasia
A
Currò
Monica
M
Caccamo
Daniela
D
Ferlazzo
Nadia
N
Macrì
Ilaria
I
La Rosa
Maria Angela
MA
Meo
Anna
A
Ientile
Riccardo
R
D000328:Adult; D019386:Alendronate / Q000627:therapeutic use; D015519:Bone Density / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D017086:beta-Thalassemia / Q000188:drug therapy / Q000235:genetics*
D019386:Alendronate