口面裂的异质遗传结构。

IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Trends in Genetics Pub Date : 2024-05-01 Epub Date: 2024-03-13 DOI:10.1016/j.tig.2024.02.004
Kelsey Robinson, Sarah W Curtis, Elizabeth J Leslie
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引用次数: 0

摘要

口面裂(OFCs)很常见,每 1000 个活产婴儿中就有 1 例。OFCs 的表型范围包括唇裂 (CL)、唇腭裂 (CLP) 或腭裂 (CP),并可根据侧位、严重程度或受影响的特定结构进一步细分。在此,我们回顾了目前已知的这些亚型的遗传结构,同时考虑了共同的风险和亚型特有的风险。与 CP 相比,CL 和 CLP 之间已知的遗传相似性更多,但最近的研究支持在 OFC 表型分类内部和之间存在共同的和亚型特异的遗传风险因素。更大的样本量和更深入的表型数据对于发现 OFCs 和各种亚型的新型遗传风险因素将越来越重要。
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The heterogeneous genetic architectures of orofacial clefts.

Orofacial clefts (OFCs) are common, affecting 1:1000 live births. OFCs occur across a phenotypic spectrum - including cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP) - and can be further subdivided based on laterality, severity, or specific structures affected. Herein we review what is known about the genetic architecture underlying each of these subtypes, considering both shared and subtype-specific risks. While there are more known genetic similarities between CL and CLP than CP, recent research supports both shared and subtype-specific genetic risk factors within and between phenotypic classifications of OFCs. Larger sample sizes and deeper phenotyping data will be of increasing importance for the discovery of novel genetic risk factors for OFCs and various subtypes going forward.

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来源期刊
Trends in Genetics
Trends in Genetics 生物-遗传学
CiteScore
20.90
自引率
0.90%
发文量
160
审稿时长
6-12 weeks
期刊介绍: Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.
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