| 王斯悦,彭和香,薛恩慈,陈曦,王雪珩,范梦,王梦莹,李楠,李静,周治波,朱洪平,胡永华,吴涛.非综合征型唇腭裂的遗传预测模型研究进展[J].Chinese journal of Epidemiology,2023,44(3):504-510 |
| 非综合征型唇腭裂的遗传预测模型研究进展 |
| Progress in research of risk prediction of non-syndromic oral clefts using genetic information |
| Received:June 24, 2022 |
| DOI：10.3760/cma.j.cn112338-20220624-00556 |
| KeyWord: 出生缺陷 非综合征型唇腭裂 风险预测 风险预测模型 |
| English Key Word: Birth defect Non-syndromic oral cleft Risk prediction Genetic risk prediction model |
| FundProject:国家自然科学基金（81102178，81573225）；北京市自然科学基金（7172115） |
| Author Name | Affiliation | E-mail | | Wang Siyue | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Peng Hexiang | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Xue Enci | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Chen Xi | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wang Xueheng | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Fan Meng | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wang Mengying | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Li Nan | Department of Oral and Maxillofacial Surgery, School of Stomatology, Peking University, Beijing 100081, China | | | Li Jing | Department of Pediatrics, School of Stomatology, Peking University, Beijing 100081, China | | | Zhou Zhibo | Department of Oral and Maxillofacial Surgery, School of Stomatology, Peking University, Beijing 100081, China | | | Zhu Hongping | Department of Oral and Maxillofacial Surgery, School of Stomatology, Peking University, Beijing 100081, China | | | Hu Yonghua | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wu Tao | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China
Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Beijing 100191, China | twu@bjmu.edu.cn |
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| Abstract: |
| 非综合征型唇腭裂（NSOC）是我国常见的出生缺陷。近年来，随着我国生育政策相继调整两次，与高龄生育伴发的出生缺陷防控形势日益严峻。开展NSOC风险预测将为健全出生缺陷防控链条提供重要证据。近年来，全基因组关联研究和二代测序等发现了多个与NSOC有关的遗传位点，为开展预测提供了有益信息。本文综述了NSOC风险预测，特别是利用遗传信息开展风险预测的常用方法，以期在研究设计、变量筛选、构建策略及评价方法等方面，为进一步开发和完善NSOC等复杂出生缺陷的风险预测模型提供参考。 |
| English Abstract: |
| Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods. |
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