{Reference Type}: Journal Article
{Title}: [Genetic and functional research strategies of non-syndromic cleft lip with or without cleft palate in the post genome-wide association study era].
{Author}: Yang YX;Li MJ;Zheng Q;Shi B;Jia ZL;
{Journal}: Zhonghua Kou Qiang Yi Xue Za Zhi
{Volume}: 59
{Issue}: 6
{Year}: 2024 Jun 9
暂无{DOI}: 10.3760/cma.j.cn112144-20230727-00039
{Abstract}: The emergence of genome-wide association studies (GWAS) has greatly promoted the genetic research of non-syndromic cleft lip with or without cleft palate (NSCL/P). There have been more than 40 regions concerning NSCL/P identified by GWAS, whereas specific susceptible loci and their potential function remains unclear. In the post-GWAS era, precise localization of susceptible loci in candidate regions and exploration of underlying biological mechanism will contribute to further understanding of genetic etiology of NSCL/P. The present article reviewed the genetic and functional research strategies of NSCL/P in post-GWAS era.<BR>全基因组关联研究（GWAS）的出现推动了非综合征型唇腭裂（NSCL/P）的遗传学研究。目前由GWAS报道的NSCL/P易感区域有40余个，但这些区域内的易感位点及其功能尚不明确。在后GWAS时代，精确定位易感区域内的易感位点并探究其背后的生物学机制将有助于进一步深入认识NSCL/P的遗传病因。本文结合近年相关研究进展，对后GWAS时代NSCL/P遗传学及易感基因功能学研究策略作一综述。.