[Vitamin D receptor gene polymorphisms in female adolescent idiopathic scoliosis patients].
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).


CONCLUSIONS
The BsmI site polymorphism of vitamin D receptor gene may be associated with abnormal growth pattern and low bone mass in girls with AIS.
Xia
Cai-Wei
CW
Department of Spine Surgery, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China.
Qiu
Yong
Y
Sun
Xu
X
Qiu
Xu-Sheng
XS
Wang
Shou-Feng
SF
Zhu
Ze-Zhang
ZZ
Zhu
Feng
F
D000293:Adolescent; D000483:Alleles; D002648:Child; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*