A Genetic Predictive Model Estimating the Risk of Developing AIS
Refereed conference paper presented and published in conference proceedings


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摘要Summary
A predictive model for adolescent idiopathic scoliosis was constructed on the basis of 7 susceptible genes. It can explain 6.2% of the overall variance. With a cut-off set at 0.5, the predictive model yielded 87% sensitivity and 28.3% specificity.
Hypothesis
A combined effects of genetic factors can be used to predict the risk of AIS.
Design
A case-control association study
Introduction
Previous GWASs have revealed several susceptible variants associated with AIS. Early detection and risk prediction based on these risk variants could potentially improve disease prognosis and outcomes. This study aims to evaluate the independent and combined effects of genetic factors on the development of AIS, and to develop a genetic predictive model.
Methods
A total of 900 patients and 1400 normal controls were included. Genotyping assay were performed for 7 previously reported susceptible variants, including rs678741 in LBX1, rs241215 in AJAP1, rs13398147 in PAX3, rs16934784 in BNC2, rs2050157 in GPR126, rs2180439 in PAX1 and rs4940576 in BCL2. Unconditional logistic regression analyses were performed to generate a risk predictive model.
Results
All the 7 variants were successfully replicated in our subjects. The model was established using the following formula: P = 1/[1 + exp (-1.638 - 0.245*rs241215 + 0.4*rs13398147 + 0.197*rs2050157 + 0.296*rs2180439 + 0.393*rs16934784 + 0.327* rs678741 + 0.223*rs4940576)]. The Hosmer Lemeshow test showed no significant deviations between the observed and predicted values (p = 0.15). The Cox & Snell R Square was 0.062, indicating the predictive model can explain 6.2% of the overall variance. With a cut-off set at 0.5, our predictive model yielded 87% sensitivity and 28.3% specificity.
Conclusion
Risk models with currently reported genetic factors have remarkable but limited discrimination power. A predictive model based on more clinical and genetic factors may add to the probability to identify AIS prior to its onset.
著者Lei-Lei Xu, Xiao-dong Qin, Weixiang Sun, Weiguo Zhu, ZeZhang Zhu, Jack C.Y. Cheng, Tsz-Ping Lam, Yong Qiu
會議名稱52nd Scoliosis Research Society Annual Meeting & Course
會議開始日06.09.2017
會議完結日09.09.2017
會議地點Philadelphia
會議國家/地區美國
會議論文集題名Proceedings of the 52nd Scoliosis Research Society Annual Meeting & Course
出版年份2017
月份9
頁次248 - 248
語言英式英語

上次更新時間 2018-07-06 於 16:46