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16 March 2020 : Clinical Research  

Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study

Lianlei Wang1234ABCDEFG, Yuanqiang Zhang1234ABCDEFG, Sen Zhao134ACDEF, Xiying Dong134EF, Xiaoxin Li35BCD, Yi You35EF, Zihui Yan1234CD, Gang Liu134BEF, Bingdu Tong14B, Yaping Chen14B, Xu Yang14B, Yuan Tian14B, Na Gao14B, Yipeng Wang134BEG, Zhihong Wu1345ABG, Guixing Qiu134ABG, Jianguo Zhang134ABCDEFG, Nan Wu134ABCDEFG*, DISCO Study Group (Deciphering Disorders Involving Scoliosis & COmorbidities)A

DOI: 10.12659/MSM.921611

Med Sci Monit 2020; 26:e921611


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 AND 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.

Keywords: Estrogen Receptor alpha, Estrogen Receptor beta, Mutation, Missense, Scoliosis, Adolescent, Asians, Beijing, Child, Cohort Studies, Cross-Sectional Studies, DNA Mutational Analysis, Estradiol, Polymorphism, Single Nucleotide, Radiography, Spine, Whole Exome Sequencing



01 October 2022 : Editorial  

Editorial: Rebound COVID-19 and Cessation of Antiviral Treatment for SARS-CoV-2 with Paxlovid and Molnupiravir

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.938532

Med Sci Monit 2022; 28:e938532


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Med Sci Monit In Press; DOI: 10.12659/MSM.937987  

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750