Cargando…
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study
BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, but its etiology is unclear. Multiple genetic mutations have been reported to be associated with AIS. MATERIAL/METHODS: We enrolled a cohort of 113 surgically treated AIS patients with available parental subjects...
Autores principales: | , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101201/ https://www.ncbi.nlm.nih.gov/pubmed/32218412 http://dx.doi.org/10.12659/MSM.921611 |
_version_ | 1783511569008689152 |
---|---|
author | Wang, Lianlei Zhang, Yuanqiang Zhao, Sen Dong, Xiying Li, Xiaoxin You, Yi Yan, Zihui Liu, Gang Tong, Bingdu Chen, Yaping Yang, Xu Tian, Yuan Gao, Na Wang, Yipeng Wu, Zhihong Qiu, Guixing Zhang, Jianguo Wu, Nan |
author_facet | Wang, Lianlei Zhang, Yuanqiang Zhao, Sen Dong, Xiying Li, Xiaoxin You, Yi Yan, Zihui Liu, Gang Tong, Bingdu Chen, Yaping Yang, Xu Tian, Yuan Gao, Na Wang, Yipeng Wu, Zhihong Qiu, Guixing Zhang, Jianguo Wu, Nan |
author_sort | Wang, Lianlei |
collection | PubMed |
description | BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, but its etiology is unclear. Multiple genetic mutations have been reported to be associated with AIS. MATERIAL/METHODS: We enrolled a cohort of 113 surgically treated AIS patients with available parental subjects from the Peking Union Medical College Hospital. We performed whole-exome sequencing in 10 trio families and whole-genome sequencing in 103 singleton patients. Luciferase assay was used to detect the functional alterations of candidate ESR1 and ESR2 variants. RESULTS: Using a de novo strategy, a missense variant in ESR1 (c.868A>G) was selected as a candidate gene for AIS. The main Cobb angle of this patient was 41° (T6–T10). Another potential pathogenic variant in ESR2 (c.236T>C) was identified. The main curve of the patient was 45° at T10–L3. The transactivation capacities of the mutated ESR1 and ESR2 protein were both significantly decreased (p=0.026 and 0.014, respectively). CONCLUSIONS: Potential pathogenic variants in ESR1 and ESR2 were identified in 113 AIS patients, suggesting that genetic mutations in ESR1/2 were associated with the risk of AIS. |
format | Online Article Text |
id | pubmed-7101201 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-71012012020-03-30 Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study Wang, Lianlei Zhang, Yuanqiang Zhao, Sen Dong, Xiying Li, Xiaoxin You, Yi Yan, Zihui Liu, Gang Tong, Bingdu Chen, Yaping Yang, Xu Tian, Yuan Gao, Na Wang, Yipeng Wu, Zhihong Qiu, Guixing Zhang, Jianguo Wu, Nan Med Sci Monit Clinical Research BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, but its etiology is unclear. Multiple genetic mutations have been reported to be associated with AIS. MATERIAL/METHODS: We enrolled a cohort of 113 surgically treated AIS patients with available parental subjects from the Peking Union Medical College Hospital. We performed whole-exome sequencing in 10 trio families and whole-genome sequencing in 103 singleton patients. Luciferase assay was used to detect the functional alterations of candidate ESR1 and ESR2 variants. RESULTS: Using a de novo strategy, a missense variant in ESR1 (c.868A>G) was selected as a candidate gene for AIS. The main Cobb angle of this patient was 41° (T6–T10). Another potential pathogenic variant in ESR2 (c.236T>C) was identified. The main curve of the patient was 45° at T10–L3. The transactivation capacities of the mutated ESR1 and ESR2 protein were both significantly decreased (p=0.026 and 0.014, respectively). CONCLUSIONS: Potential pathogenic variants in ESR1 and ESR2 were identified in 113 AIS patients, suggesting that genetic mutations in ESR1/2 were associated with the risk of AIS. International Scientific Literature, Inc. 2020-03-16 /pmc/articles/PMC7101201/ /pubmed/32218412 http://dx.doi.org/10.12659/MSM.921611 Text en © Med Sci Monit, 2020 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Clinical Research Wang, Lianlei Zhang, Yuanqiang Zhao, Sen Dong, Xiying Li, Xiaoxin You, Yi Yan, Zihui Liu, Gang Tong, Bingdu Chen, Yaping Yang, Xu Tian, Yuan Gao, Na Wang, Yipeng Wu, Zhihong Qiu, Guixing Zhang, Jianguo Wu, Nan Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title_full | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title_fullStr | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title_full_unstemmed | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title_short | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study |
title_sort | estrogen receptors (esrs) mutations in adolescent idiopathic scoliosis: a cross-sectional study |
topic | Clinical Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101201/ https://www.ncbi.nlm.nih.gov/pubmed/32218412 http://dx.doi.org/10.12659/MSM.921611 |
work_keys_str_mv | AT wanglianlei estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT zhangyuanqiang estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT zhaosen estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT dongxiying estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT lixiaoxin estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT youyi estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT yanzihui estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT liugang estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT tongbingdu estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT chenyaping estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT yangxu estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT tianyuan estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT gaona estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT wangyipeng estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT wuzhihong estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT qiuguixing estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT zhangjianguo estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT wunan estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy AT estrogenreceptorsesrsmutationsinadolescentidiopathicscoliosisacrosssectionalstudy |