Objective: To investigate the association of vitamin D receptor (VDR) gene polymorphisms with abnormal growth pattern and low bone mass in adolescent idiopathic scoliosis (AIS) patients.
Methods: Peripheral blood samples were obtained from 164 female patients with AIS, aged 14.4 +/- 2 (9 - 20), and 122 age-matched healthy girls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the VDR gene distributions.
Results: The frequency of Bb genotype was significantly higher in the AIS patients than in the controls (P < 0.01). The frequency of B alleles of the AIS patients was significantly higher than that of the controls (P < 0.01). In AIS patients, the expression rate of Aa genotype of the AIS patients with the body mass index (BMI) > or = 18 kg/m(2) was significantly higher than those with the BMI < 18 kg/m(2) (P < 0.05), and the expression rate of Bb genotype of the AIS patients with the BMI < 18 kg/m(2) and arm span < 160 cm was significantly higher than that of the AIS patients with the BMI > or = 18 kg/m(2) and arm span > or = 160 cm (P < 0.05).
Conclusion: The BsmI site polymorphism of vitamin D receptor gene may be associated with abnormal growth pattern and low bone mass in girls with AIS.
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