[后全基因组关联研究时代非综合征唇裂伴或不伴腭裂的遗传和功能研究策略]。

Q4 Medicine

中华口腔医学杂志 Pub Date : 2024-06-09 DOI:10.3760/cma.j.cn112144-20230727-00039

Y X Yang, M J Li, Q Zheng, B Shi, Z L Jia

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引用次数: 0

摘要

全基因组关联研究（GWAS）的出现极大地促进了非综合征唇裂伴或不伴腭裂（NSCL/P）的遗传学研究。目前，全基因组关联研究已发现 40 多个与 NSCL/P 相关的区域，但具体的易感基因位点及其潜在功能仍不清楚。在后 GWAS 时代，精确定位候选区域中的易感基因座并探索其潜在的生物学机制将有助于进一步了解 NSCL/P 的遗传病因。本文综述了后GWAS时代NSCL/P的遗传和功能研究策略。

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[Genetic and functional research strategies of non-syndromic cleft lip with or without cleft palate in the post genome-wide association study era].

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.

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来源期刊

中华口腔医学杂志 Medicine-Medicine (all)

CiteScore

0.90

自引率

0.00%

发文量

9692

期刊介绍： Founded in August 1953, Chinese Journal of Stomatology is a monthly academic journal of stomatology published publicly at home and abroad, sponsored by the Chinese Medical Association and co-sponsored by the Chinese Stomatology Association. It mainly reports the leading scientific research results and clinical diagnosis and treatment experience in the field of oral medicine, as well as the basic theoretical research that has a guiding role in oral clinical practice and is closely combined with oral clinical practice. Chinese Journal of Over the years, Stomatology has been published in Medline, Scopus database, Toxicology Abstracts Database, Chemical Abstracts Database, American Cancer database, Russian Abstracts database, China Core Journal of Science and Technology, Peking University Core Journal, CSCD and other more than 20 important journals at home and abroad Physical medicine database and retrieval system included.