Tags

Type your tag names separated by a space and hit enter

A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases.
Spine (Phila Pa 1976). 2006 Oct 01; 31(21):2463-8.S

Abstract

STUDY DESIGN

A genetic association study of estrogen receptor-[alpha] 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 degrees 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.

Authors+Show Affiliations

Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17023856

Citation

Tang, Nelson Leung-Sang, et al. "A Relook Into the Association of the Estrogen Receptor [alpha] Gene (PvuII, XbaI) and Adolescent Idiopathic Scoliosis: a Study of 540 Chinese Cases." Spine, vol. 31, no. 21, 2006, pp. 2463-8.
Tang NL, Yeung HY, Lee KM, et al. A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. Spine (Phila Pa 1976). 2006;31(21):2463-8.
Tang, N. L., Yeung, H. Y., Lee, K. M., Hung, V. W., Cheung, C. S., Ng, B. K., Kwok, R., Guo, X., Qin, L., & Cheng, J. C. (2006). A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. Spine, 31(21), 2463-8.
Tang NL, et al. A Relook Into the Association of the Estrogen Receptor [alpha] Gene (PvuII, XbaI) and Adolescent Idiopathic Scoliosis: a Study of 540 Chinese Cases. Spine (Phila Pa 1976). 2006 Oct 1;31(21):2463-8. PubMed PMID: 17023856.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. AU - Tang,Nelson Leung-Sang, AU - Yeung,Hiu-Yan, AU - Lee,Kwong-Man, AU - Hung,Vivian Wing-Yin, AU - Cheung,Catherine Siu-King, AU - Ng,Bobby Kin-Wah, AU - Kwok,Rachel, AU - Guo,Xia, AU - Qin,Ling, AU - Cheng,Jack Chun-Yiu, PY - 2006/10/7/pubmed PY - 2007/1/2/medline PY - 2006/10/7/entrez SP - 2463 EP - 8 JF - Spine JO - Spine (Phila Pa 1976) VL - 31 IS - 21 N2 - STUDY DESIGN: A genetic association study of estrogen receptor-[alpha] 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 degrees 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. SN - 1528-1159 UR - https://www.unboundmedicine.com/medline/citation/17023856/A_relook_into_the_association_of_the_estrogen_receptor_[alpha]_gene__PvuII_XbaI__and_adolescent_idiopathic_scoliosis:_a_study_of_540_Chinese_cases_ L2 - https://doi.org/10.1097/01.brs.0000239179.81596.2b DB - PRIME DP - Unbound Medicine ER -