Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic
Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both genetic and environmental factors. In the past few years, various genetic inheritance models have been propos...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-09-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/10/1859 |
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| author | Xi Cheng Fengzhou Du Xiao Long Jiuzuo Huang |
| author_facet | Xi Cheng Fengzhou Du Xiao Long Jiuzuo Huang |
| author_sort | Xi Cheng |
| collection | DOAJ |
| description | Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both genetic and environmental factors. In the past few years, various genetic inheritance models have been proposed to elucidate the underlying mechanisms of NSCL/P. These models range from simple monogenic inheritance to more complex polygenic inheritance. Here, we present a comprehensive overview of the genetic inheritance model of NSCL/P exemplified by representative genes and regions from both monogenic and polygenic perspectives. We also summarize existing association studies and corresponding loci of NSCL/P within the Chinese population and highlight the potential of utilizing polygenic risk scores for risk stratification of NSCL/P. The potential application of polygenic models offers promising avenues for improved risk assessment and personalized approaches in the prevention and management of NSCL/P individuals. |
| first_indexed | 2024-03-11T10:15:13Z |
| format | Article |
| id | doaj.art-ddd4ec0cfbea445b9227c833d7683bbc |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T10:15:13Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-ddd4ec0cfbea445b9227c833d7683bbc2023-11-16T10:29:33ZengMDPI AGGenes2073-44252023-09-011410185910.3390/genes14101859Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to PolygenicXi Cheng0Fengzhou Du1Xiao Long2Jiuzuo Huang3Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaPeking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaPeking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaPeking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaNon-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both genetic and environmental factors. In the past few years, various genetic inheritance models have been proposed to elucidate the underlying mechanisms of NSCL/P. These models range from simple monogenic inheritance to more complex polygenic inheritance. Here, we present a comprehensive overview of the genetic inheritance model of NSCL/P exemplified by representative genes and regions from both monogenic and polygenic perspectives. We also summarize existing association studies and corresponding loci of NSCL/P within the Chinese population and highlight the potential of utilizing polygenic risk scores for risk stratification of NSCL/P. The potential application of polygenic models offers promising avenues for improved risk assessment and personalized approaches in the prevention and management of NSCL/P individuals.https://www.mdpi.com/2073-4425/14/10/1859non-syndromic cleft lip with or without palate (NSCL/P)genetic etiologyinheritance modelpolygenic risk score (PRS) |
| spellingShingle | Xi Cheng Fengzhou Du Xiao Long Jiuzuo Huang Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic Genes non-syndromic cleft lip with or without palate (NSCL/P) genetic etiology inheritance model polygenic risk score (PRS) |
| title | Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic |
| title_full | Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic |
| title_fullStr | Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic |
| title_full_unstemmed | Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic |
| title_short | Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic |
| title_sort | genetic inheritance models of non syndromic cleft lip with or without palate from monogenic to polygenic |
| topic | non-syndromic cleft lip with or without palate (NSCL/P) genetic etiology inheritance model polygenic risk score (PRS) |
| url | https://www.mdpi.com/2073-4425/14/10/1859 |
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