Genome-wide association study on craniofacial microsomia. Homo sapiens

Craniofacial microsomia encapsulates congenital anomalies of the external and middle ear, maxilla, mandible, facial and trigeminal nerves, and surrounding soft tissues on the affected side. The recruitment of craniofacial microsomia samples is a huge problem to bind the investigation of its genetic basis because of the lower prevalence rate (ranging between 1 and 4 per 10,000 births) and consultation rate. Here, we performed the first genome-wide associations study on craniofacial microsomia and identified many significant loci associated with craniofacial microsomia. Overall design: To investigate the loci associated with craniofacial microsomia, we performed GWAS on patients from China .

颅面小畸形（Craniofacial microsomia）涵盖患侧外中耳、上颌骨、下颌骨、面神经与三叉神经及其周围软组织的先天性发育异常。由于该病患病率较低（每10000活产儿中为1至4例）且就诊率偏低，其样本募集始终是制约遗传基础研究推进的重大难题。本研究首次针对颅面小畸形开展全基因组关联研究（Genome-Wide Association Study，GWAS），并鉴定出多个与该病显著相关的基因位点。总体研究设计：为探究与颅面小畸形相关的遗传位点，本研究对中国人群的患者开展了全基因组关联研究。