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Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.
Spine (Phila Pa 1976). 2009 Apr 15; 34(8):760-4.S

Abstract

STUDY DESIGN

A case-control study is presented.

OBJECTIVE

To investigate the association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis.

SUMMARY OF BACKGROUND DATA

Studies have shown that idiopathic scoliosis is related to genetic factors, such as XbaI site polymorphism of the estrogen receptor alpha gene. To our knowledge, however, the relationship of estrogen receptor beta gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied.

METHODS

This study included 218 patients with AIS and 140 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. Blood samples were taken from each subject by venipuncture. Genomic DNA was extracted from peripheral blood leukocytes using standard phenol/chloroform extraction. PCR products from amplification of genomic DNA from all individuals were analyzed using denaturing high-performance liquid chromatography. Samples with aberrant HPLC profiles were sequenced in both the forward and the reverse directions on an ABI 3100 automated sequencer. The chi test was used to determine the significant difference in genotype distribution between patients with AIS and the controls.

RESULTS

The frequency of CC genotype of the exon ØK (in reality 5' UTR OK-1)was significantly higher in patients than that in controls (P < 0.05). The C alleles appeared to be overrepresented in patients compared with controls (P < 0.05). Furthermore, the frequencies of CC genotypes in female patients whose height was > or =160 cm and Cobb angle was > or =30 degrees were higher than those whose height was <160 cm and Cobb angle was <30 degrees (P < 0.05). CONCLUSION.: The sites of the exon ØK polymorphisms of estrogen receptor beta gene may be associated with a susceptibility of AIS. Furthermore, the sites of the exon ØK polymorphism may be associated with the height and the curve severity of patients.

Authors+Show Affiliations

Department of Spine Surgery, Xiangya Spinal Surgery Center, Xiangya Hospital of Central South University, ChangSha, China. zhq9996@163.comNo 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)

Journal Article

Language

eng

PubMed ID

19337134

Citation

Zhang, Hong-Qi, et al. "Association of Estrogen Receptor Beta Gene Polymorphisms With Susceptibility to Adolescent Idiopathic Scoliosis." Spine, vol. 34, no. 8, 2009, pp. 760-4.
Zhang HQ, Lu SJ, Tang MX, et al. Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine (Phila Pa 1976). 2009;34(8):760-4.
Zhang, H. Q., Lu, S. J., Tang, M. X., Chen, L. Q., Liu, S. H., Guo, C. F., Wang, X. Y., Chen, J., & Xie, L. (2009). Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine, 34(8), 760-4. https://doi.org/10.1097/BRS.0b013e31818ad5ac
Zhang HQ, et al. Association of Estrogen Receptor Beta Gene Polymorphisms With Susceptibility to Adolescent Idiopathic Scoliosis. Spine (Phila Pa 1976). 2009 Apr 15;34(8):760-4. PubMed PMID: 19337134.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. AU - Zhang,Hong-Qi, AU - Lu,Shi-Jin, AU - Tang,Ming-Xing, AU - Chen,Ling-Qiang, AU - Liu,Shao-Hua, AU - Guo,Chao-Feng, AU - Wang,Xi-Yang, AU - Chen,Jing, AU - Xie,Ling, PY - 2009/4/2/entrez PY - 2009/4/2/pubmed PY - 2009/9/30/medline SP - 760 EP - 4 JF - Spine JO - Spine (Phila Pa 1976) VL - 34 IS - 8 N2 - STUDY DESIGN: A case-control study is presented. OBJECTIVE: To investigate the association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Studies have shown that idiopathic scoliosis is related to genetic factors, such as XbaI site polymorphism of the estrogen receptor alpha gene. To our knowledge, however, the relationship of estrogen receptor beta gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied. METHODS: This study included 218 patients with AIS and 140 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. Blood samples were taken from each subject by venipuncture. Genomic DNA was extracted from peripheral blood leukocytes using standard phenol/chloroform extraction. PCR products from amplification of genomic DNA from all individuals were analyzed using denaturing high-performance liquid chromatography. Samples with aberrant HPLC profiles were sequenced in both the forward and the reverse directions on an ABI 3100 automated sequencer. The chi test was used to determine the significant difference in genotype distribution between patients with AIS and the controls. RESULTS: The frequency of CC genotype of the exon ØK (in reality 5' UTR OK-1)was significantly higher in patients than that in controls (P < 0.05). The C alleles appeared to be overrepresented in patients compared with controls (P < 0.05). Furthermore, the frequencies of CC genotypes in female patients whose height was > or =160 cm and Cobb angle was > or =30 degrees were higher than those whose height was <160 cm and Cobb angle was <30 degrees (P < 0.05). CONCLUSION.: The sites of the exon ØK polymorphisms of estrogen receptor beta gene may be associated with a susceptibility of AIS. Furthermore, the sites of the exon ØK polymorphism may be associated with the height and the curve severity of patients. SN - 1528-1159 UR - https://www.unboundmedicine.com/medline/citation/19337134/Association_of_estrogen_receptor_beta_gene_polymorphisms_with_susceptibility_to_adolescent_idiopathic_scoliosis_ L2 - https://doi.org/10.1097/BRS.0b013e31818ad5ac DB - PRIME DP - Unbound Medicine ER -