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Current progress in genetic research of adolescent idiopathic scoliosis.

ABSTRACT: Previous genetic linkage analysis and candidate gene association analysis have unveiled dozens of variants associated with the development of adolescent idiopathic scoliosis (AIS), which however can seldom be replicated in different ethnics. Recently, two genome-wide association studies of AIS performed in Japan revealed that ladybird homeobox 1 (LBX1) gene and G protein-coupled receptor 126 (GPR126) gene could play a role in the etiopathogenesis of the disease. Since the association between these two genes and AIS were successfully validated in the Caucasian and the Chinese population, LBX1 gene and GPR126 gene were the most reliable genetic variants underling the development of AIS.

SUBMITTER: Zhu Z

PROVIDER: S-EPMC4437942 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

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Current progress in genetic research of adolescent idiopathic scoliosis.

Zhu Zezhang Z Xu Leilei L Qiu Yong Y

Annals of translational medicine 20150501 Suppl 1

Previous genetic linkage analysis and candidate gene association analysis have unveiled dozens of variants associated with the development of adolescent idiopathic scoliosis (AIS), which however can seldom be replicated in different ethnics. Recently, two genome-wide association studies of AIS performed in Japan revealed that ladybird homeobox 1 (LBX1) gene and G protein-coupled receptor 126 (GPR126) gene could play a role in the etiopathogenesis of the disease. Since the association between the ...[more]

PMID: 26046064

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Project description:Study designOutcome investigation to verify the internal consistency, reproducibility and validity of the adapted Chinese version of the Scoliosis Research Society-22 (SRS-22) questionnaire for measuring health-related quality of life (HRQoL) in children with idiopathic scoliosis.ObjectiveTo develop this questionnaire for the outcome measurement in treating Chinese adolescents with idiopathic scoliosis and evaluate its metric qualities. The SRS-22 questionnaire has proven to be a valid instrument for clinical assessment of patients with idiopathic scoliosis and has been successfully translated into Spanish and Turkish. In most developing countries, however, quality of life and psychological health have been poorly described when treating children with idiopathic scoliosis.MethodsTrans-cultural adaptation of the SRS-22 questionnaire was carried out according to the International Quality of Life Assessment Project guidelines. The final version was approved by a committee of experts. The questionnaire was completed by 86 adolescents with idiopathic scoliosis who had been treated with a brace; this included 11 males and 75 females, aged from 10 to 18 years (mean 13.9 years). Curve magnitude ranged from 25 degrees to 45 degrees (mean 35.6 degrees ). A subgroup of 30 patients completed the questionnaire again in 3 or 4 weeks.ResultsFive common factors were acquired from factorial analysis, and the cumulative contribution ratio was 67.66%. The overall alpha coefficient of the questionnaire was 0.88. Coefficients for individual domains were as follows: function/activity, 0.70; pain, 0.80; self-image, 0.80; mental health, 0.88; and satisfaction, 0.81. The questionnaire as a whole had a test-retest correlation coefficient of 0.97. Test-retest correlation coefficients for individual domains were as follows: function, 0.85; pain, 0.96; self-image, 0.96; mental health, 0.95; and satisfaction, 0.91.ConclusionThe Chinese version of the SRS-22 questionnaire is eligible in terms of reliability and validity, and can be used to measure HRQoL for adolescent idiopathic scoliosis patients in Mainland China.

Dataset Information

Current progress in genetic research of adolescent idiopathic scoliosis.

Publications

Current progress in genetic research of adolescent idiopathic scoliosis.

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