Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.
METHODS
A case-control study is presented.


OBJECTIVE
To investigate the association of estrogen receptor gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk.


BACKGROUND
Previous studies have shown that genetic factors are important in the pathogenesis of idiopathic scoliosis. Only 1 publication suggested that XbaI site polymorphism was associated with curve severity of idiopathic scoliosis. However, to our knowledge, the relationship of estrogen receptor gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.


METHODS
This study included 202 patients with AIS and 174 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. There were 2 polymorphic loci, PvuII and XbaI locus, of estrogen receptor analyzed by restriction fragment length polymorphisms.


RESULTS
The frequency of XX genotype was significantly higher in patients than that in controls (P = 0.005). The X allele appeared to be overrepresented in patients compared with controls (P = 0.001). Furthermore, the frequencies of XX genotype in female patients whose height was > or = 160 cm and Cobb angle > or = 40 degrees were higher than those whose height was <160 cm and Cobb angle <40 degrees (P = 0.001 and P < 0.001, respectively).


CONCLUSIONS
The XbaI site polymorphism of estrogen receptor gene may be associated with a risk of AIS.
Wu
Jie
J
Department of Orthopaedic Surgery, Drum Tower Hospital, School of Medicine, Nanjing University, Nanjing, China.
Qiu
Yong
Y
Zhang
Le
L
Sun
Qiang
Q
Qiu
Xusheng
X
He
Yongxiong
Y
D000293:Adolescent; D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography; D011960:Receptors, Estrogen / Q000235:genetics* / Q000378:metabolism; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology
D011960:Receptors, Estrogen