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Genomic polymorphisms of G-Protein Estrogen Receptor 1 are associated with severity of adolescent idiopathic scoliosis

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Abstract

Purpose

Adolescent idiopathic scoliosis (AIS) is reported to be associated with the two traditional estrogen receptor genes, ESR1 and ESR2. Yet, the novel estrogen receptor G protein-coupled estrogen receptor 1 (GPER) has not been studied. To investigate the association of GPER gene polymorphisms with the onset and deterioration of AIS, we performed a case-control study.

Methods

Clinical information was recorded, blood samples were taken and genomic DNA was extracted. After resequencing the gene in 45 cases and 45 controls who were randomly selected, 16 tag single nucleotide polymorphisms (SNPs) were selected. Then the association study was extended by an additional 344 patients and 293 controls with direct sequencing and a TaqMan-based genotyping assay. The chi-square test and logistic regression were used to analyse the genotypic and allelic association. One-way analysis of variance was used to compare the mean maximum Cobb angles and ages with different genotypes in the case-only data set.

Results

No association was observed between the polymorphisms of the GPER gene and susceptibility to AIS. However, heterozygotes in three SNPs of the gene (rs3808351, rs10269151 and rs426655s3) were related significantly with the curve severity in AIS patients (P = 0.004, 0.048 and 0.028, respectively).

Conclusions

Our results demonstrate that GPER gene polymorphisms are associated with the severity of curvature in AIS; deficits of GPER may contribute to the deterioration of spine deformity.

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Acknowledgements

We thank the patients and their families for their cooperation. We also thank Professor Yiming Wang (Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University ) for providing technical guidance.

This work was supported by the National Natural Science, Foundation of China ( No. 30700456); Natural Science, Foundation of Guangdong Province (8151008901000141); Research Fund of Social Development of Guangdong Province (2010B031900023); the Fundamental Research Funds for the Central Universities (No.09ykpy39).

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Authors and Affiliations

  1. Sun Yat-sen Memorial Hospital of Sun Yat-sen University, #107 West Yan Jiang Road, Guangzhou, Guangdong, 510120, China

    Yan Peng, Guoyan Liang, Wei Ye & Anjing Liang

  2. Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University, #74 Zhongshan Road II, Guangzhou, Guangdong, 510089, China

    Yuanyuan Pei

  3. Spine Surgery, the First Affiliated Hospital of Sun Yat-sen University, #58 Zhongshan Road II, Guangzhou, Guangdong, 510080, China

    Peiqiang Su

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  1. Yan Peng
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  2. Guoyan Liang
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  3. Yuanyuan Pei
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  4. Wei Ye
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Corresponding author

Correspondence to Peiqiang Su.

Additional information

Yan Peng and Guoyan Liang contributed equally to this work.

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Peng, Y., Liang, G., Pei, Y. et al. Genomic polymorphisms of G-Protein Estrogen Receptor 1 are associated with severity of adolescent idiopathic scoliosis. International Orthopaedics (SICOT) 36, 671–677 (2012). https://doi.org/10.1007/s00264-011-1374-8

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  • DOI: https://doi.org/10.1007/s00264-011-1374-8

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