Open AccessJournal Article
Association of estrogen receptorβ gene polymorphisms with susceptibility to adolescent idiopathic scoliosis
TLDR
The sites of the extron "OK",extron 5 polymorphism of estrogen receptor geneβ may be associated with a susceptibility to adolescent idiopathic scoliosis and the height and the curve severity of patients.Abstract:
Objective To investigate the association of estrogen receptor β gene polymorphisms with susceptibility to adolescent idiopathic scoliosis Methods This study included 102 patients with AIS and 100 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 analysed using SSCP Mutation analysis were carried out for the samples with aberrant SSCP profiles and the polymorphic loci were analyzed by RFLP The χ2 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 extron "OK",AA of the extron 5 were significantly higher in patients than that in controls (P 005) The C and A alleles appeared to be overrepresented in patients compared with controls (P 005) Furthermore,the frequencies of CC and AA genotypes in female patients whose height was≥160 cm and Cobb angle ≥30° were higher than those whose height was 160 cm and Cobb angle 30° (P 005) Conclusions The sites of the extron "OK",extron 5 polymorphism of estrogen receptor geneβ may be associated with a susceptibility of AIS Furthermore,The sites of the extron "OK" and extron 5 polymorphism may be associated with the height and the curve severity of patientsread more
Citations
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Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
Zhijun Chen,Nelson L.S. Tang,Xing-Bin Cao,Xing-Bin Cao,Di Qiao,Long Yi,Jack C. Y. Cheng,Yong Qiu,Yong Qiu +8 more
TL;DR: It is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region was associated with both susceptibility and disease progression in AIS.
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Teleosts as models for human vertebral stability and deformity.
Kristen F. Gorman,Felix Breden +1 more
TL;DR: It is suggested that fish are an unexploited resource for understanding the basic elements of vertebral stability, deformity, development and genetics and are a value to vertebral research because they are tractable, have a diversity of non-induced vertebral deformities, and substantial genomic resources.
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SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese.
Yanhui Fan,You-Qiang Song,Daniel W. Chan,Yohei Takahashi,Shiro Ikegawa,Morio Matsumoto,Ikuyo Kou,Kathryn S.E. Cheah,Pak C. Sham,Kenneth M.C. Cheung,Keith D. K. Luk +10 more
TL;DR: The results of this study confirm that SNP rs11190870 is associated with AIS.
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Recent advances in the aetiology of adolescent idiopathic scoliosis
TL;DR: With improvements in diagnostic methods, imaging and genomics, there has been considerable recent work on aetiology and this review aims to bring readers up-to-date with the latest developments in scoliosis research.
Journal ArticleDOI
Potential genetic markers predicting the outcome of brace treatment in patients with adolescent idiopathic scoliosis
TL;DR: ERα and TPH-1 might be potential genetic markers that could predict the outcome of brace treatment, and they were demonstrated to be independent factors predictive of bracing effectiveness.
References
More filters
Journal ArticleDOI
Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
Zhijun Chen,Nelson L.S. Tang,Xing-Bin Cao,Xing-Bin Cao,Di Qiao,Long Yi,Jack C. Y. Cheng,Yong Qiu,Yong Qiu +8 more
TL;DR: It is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region was associated with both susceptibility and disease progression in AIS.
Journal ArticleDOI
Teleosts as models for human vertebral stability and deformity.
Kristen F. Gorman,Felix Breden +1 more
TL;DR: It is suggested that fish are an unexploited resource for understanding the basic elements of vertebral stability, deformity, development and genetics and are a value to vertebral research because they are tractable, have a diversity of non-induced vertebral deformities, and substantial genomic resources.
Journal ArticleDOI
SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese.
Yanhui Fan,You-Qiang Song,Daniel W. Chan,Yohei Takahashi,Shiro Ikegawa,Morio Matsumoto,Ikuyo Kou,Kathryn S.E. Cheah,Pak C. Sham,Kenneth M.C. Cheung,Keith D. K. Luk +10 more
TL;DR: The results of this study confirm that SNP rs11190870 is associated with AIS.
Journal ArticleDOI
Recent advances in the aetiology of adolescent idiopathic scoliosis
TL;DR: With improvements in diagnostic methods, imaging and genomics, there has been considerable recent work on aetiology and this review aims to bring readers up-to-date with the latest developments in scoliosis research.
Journal ArticleDOI
Potential genetic markers predicting the outcome of brace treatment in patients with adolescent idiopathic scoliosis
TL;DR: ERα and TPH-1 might be potential genetic markers that could predict the outcome of brace treatment, and they were demonstrated to be independent factors predictive of bracing effectiveness.