Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/33003
Title: A relook into the association of the estrogen receptor α gene (PvuII, XbaI) and adolescent idiopathic scoliosis : a study of 540 Chinese cases
Authors: Tang, NLS
Yeung, HY
Lee, KM
Hung, VWY
Cheung, CSK
Ng, BKW
Kwok, R
Guo, X 
Qin, L
Cheng, JCY
Keywords: Adolescent idiopathic scoliosis
Anthropometry
Curve severity
Estrogen receptor
Restriction fragment length polymorphism
Issue Date: 2006
Publisher: Lippincott Williams & Wilkins
Source: Spine, 2006, v. 31, no. 21, p. 2463-2468 How to cite?
Journal: Spine 
Abstract: STUDY DESIGN. A genetic association study of estrogen receptor-α gene (ESR1) with adolescent idiopathic scoliosis (AIS) in Chinese. OBJECTIVES. To investigate whether: 1) PvuII and XbaI polymorphisms in ESR1 are predisposition factor for AIS and 2) these polymorphisms correlate with the severity of curvature in AIS. SUMMARY OF BACKGROUND DATA. A common single nucleotide polymorphism (SNP) in ESR1 (XbaI) was found to be associated with curve severity in Japanese AIS patients recently. The role of ESR1 as a predisposition gene using a case-control design in other ethnic groups is required to confirm the previous associations. METHODS. A total of 540 Chinese AIS girls with Cobb angle above 20° were recruited as cases together with 260 healthy controls. The effect of ESR1 SNPs on severity of scoliosis was analyzed in a subgroup of AIS patients (n = 364) followed up until skeletal maturity with the maximum Cobb angle recorded. Two SNPs in ESR1 were genotyped by PCR-restriction fragment length polymorphism in all subjects. RESULTS. The allelic frequency of X allele was 23% in both case and control groups. The P allele was found at allelic frequency of 40% and 36% in the case and control groups, respectively. No association between the two ESR1 SNPs and the occurrence of AIS by both genotype and haplotype analysis could be established, suggesting that both SNPs were not predisposition alleles for AIS. AIS patients with different genotypes showed no difference in the maximum Cobb angle. No association was found between the genotype and anthropometric measurements in AIS patients. CONCLUSION. The previously reported association with curve severity could not be replicated in our large series of Chinese AIS patients. The current study also did not show any association of the 2 SNPs with increased risk of having AIS.
URI: http://hdl.handle.net/10397/33003
ISSN: 0362-2436
EISSN: 1528-1159
DOI: 10.1097/01.brs.0000239179.81596.2b
Appears in Collections:Journal/Magazine Article

Access
View full-text via PolyU eLinks SFX Query
Show full item record

SCOPUSTM   
Citations

38
Last Week
0
Last month
0
Citations as of Aug 12, 2017

WEB OF SCIENCETM
Citations

32
Last Week
0
Last month
1
Citations as of Aug 4, 2017

Page view(s)

35
Last Week
1
Last month
Checked on Aug 13, 2017

Google ScholarTM

Check

Altmetric



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.