A Study on the Relationship Between MEOX2 Gene and Congenital Microtia
FENG Tao
QIAN Jin
WANG Bingqing
WANG Yue
ZHANG Qingguo
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.
Keywords：MicrotiaMEOX2 GeneAssociation Assay
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 362-368 )