Genetic association study of insulin-like growth factor-I (IGF-I) gene with curve severity and osteopenia in adolescent idiopathic scoliosis.
IGF-I has a pivotal role in bone growth and could be one of the putative disease-modifier genes in AIS. Two SNPs in IGF-I gene promoter region were studied for any association with occurrence of AIS and for their effect on the curve severity among AIS.


METHODS
506 AIS girls (Cobb>20 degrees) and 227 age-matched Chinese girls were recruited. The spine (L2-L4) and hip BMD of the subjects were measured by DXA. A subgroup of AIS patients (N=340) who were followed-up to skeletal maturity and the maximum Cobb's angle was recorded. Two SNPs were genotyped by PCR-RFLP (rs5742612 and rs2288377). The chi-square test and one-way ANOVA were used to test the association between genotypes and quantitative parameters, respectively.


RESULTS
No association was between the genotypes and the occurrence of AIS and the BMD of the spine and hip. The allelic frequency of T allele was 0.69 in AIS and control. However, the Cobb's angle was higher in patients with the homozygous T allele (Mean Cobb's angle: 38.1 degrees in TT vs 35.9 degrees in TC vs 33.2 degrees in CC group; p=0.04).


CONCLUSIONS
Interestingly, IGF-I polymorphism affects the curve severity of AIS though it was not associated with onset of AIS per se. It indicates that IGF-I may be a disease modifying gene. The importance of IGF-I in skeletal growth makes it a good candidate gene which would play a role in the documented association of rapid growth with curve progression in AIS.
Yeung
H Y
HY
Department of Orthopaedics and Traumatology, The Chinese University of Hong Kong, China.
Tang
N L
NL
Lee
K M
KM
Ng
B K W
BK
Hung
V W Y
VW
Kwok
R
R
Guo
X
X
Qin
L
L
Cheng
J C Y
JC
D000293:Adolescent; D001851:Bone Diseases, Metabolic; D002648:Child; D005260:Female; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics* / Q000503:physiopathology*
D007334:Insulin-Like Growth Factor I