下颌前突畸形遗传学研究进展

Genetic research progress on mandibular prognathism

下颌前突(MP)是一种以下颌骨发育过度为特征的颌面部畸形,由遗传和环境因素共同作用引起,严重影响患者口颌功能和颜面美观。MP相关的遗传学研究相继报道了许多可疑致病基因座位和变异位点,这些研究进展为阐明MP的病因和发病机制提供了线索。现从家系连锁分析、病例对照关联研究、microRNA水平研究和相关遗传综合征等几方面对下颌前突的遗传研究进展作一综述。

Mandibular prognathism(MP)is a maxillofacial deformity characterized by overgrowth of the lower jaw.It is caused by the combined effect of genetic and environmental factors,and seriously affects the patient’s maxillofacial function and facial aesthetics.Many suspected pathogenic loci and variants have been reported in the genetic studies related to MP,which provide clues for elucidating the etiology and pathogenesis of MP.This article reviews the progress of genetic research on mandibular prognathism from the aspects of family linkage analysis,case-control association study,microRNA level study and related genetic synthesis.