中华耳科学杂志2018，Vol.16Issue(3)：362-368,7.DOI:10.3969/j.issn.1672-2922.2018.03.021
MEOX2基因与先天性小耳畸形相关性研究
A Study on the Relationship Between MEOX2 Gene and Congenital Microtia
摘要
Abstract
Objective Congenital microtia was the second most common craniofacial anomaly in China. Most pre-vious studies on congenital microtia focused on surgical treatment techniques and epidemiology, while few considered genetic factors. As a homeobox gene, encoded protein of MEOX2 is a nuclear transcription factor that can activate or in-hibit the expression of its downstream genes. Studies based on pedigrees have identified mutations within homeobox genes as the causes of microtia. To add more knowledge on the relationship between homeobox gene and microtia. Methods We genotyped tag SNPs from MEOX2 in 328 microtia patients and 500 healthy controls. Results We found 2 significant (Bonferroni P＜0.05) microtia associated loci which were rs76405124 and rs10224052, respectively. We an-alyzed genotype imputation by Impute2 and found rs71549953 was another significant (Bonferroni P＜0.05) microtia associated loci. Conclusion Our research has not only revealed a new associated gene for microtia, but also provided new insight into the etiology of microtia.关键词
先天性小耳畸形/MEOX2基因/关联分析研究Key words
Microtia/MEOX2 Gene/Association Assay分类
医药卫生引用本文复制引用
冯涛,钱瑾,王冰清,王悦,章庆国..MEOX2基因与先天性小耳畸形相关性研究[J].中华耳科学杂志,2018,16(3):362-368,7.基金项目
国家自然科学基金项目(81372085,81571924,81701930) （81372085,81571924,81701930）
81372085:利用两阶段法全基因组关联研究探寻我国非综合征型先天外中耳畸形的易感基因及功能研究 （）
81571924:先天性外中耳畸形的基因环境交互作用研究 （）
81701930:目标区域捕获测序探查与半侧颜面短小显著关联的染色体区域内的致病突变 This study was supported by grants from the National Natural Science Foundation of China (81372085, 81571924 to ZHANG Qingguo and 81701930 to WANG Bingqing). （81372085, 81571924 to ZHANG Qingguo and 81701930 to WANG Bingqing）
