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Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population

BACKGROUND: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial birth malformations in humans and are generally classified as nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Genome‐wide association studies (GWASs) of NSOFCs...

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Autores principales: Yu, Yafen, Zhen, Qi, Chen, Weiwei, Yu, Yanqin, Li, Zhuo, Wang, Yirui, Fan, Wencheng, Luo, Sihan, Wang, Daiyue, Bai, Yuanming, Bian, Zhuan, He, Miao, Sun, Liangdan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568389/
https://www.ncbi.nlm.nih.gov/pubmed/37326468
http://dx.doi.org/10.1002/mgg3.2226
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author Yu, Yafen
Zhen, Qi
Chen, Weiwei
Yu, Yanqin
Li, Zhuo
Wang, Yirui
Fan, Wencheng
Luo, Sihan
Wang, Daiyue
Bai, Yuanming
Bian, Zhuan
He, Miao
Sun, Liangdan
author_facet Yu, Yafen
Zhen, Qi
Chen, Weiwei
Yu, Yanqin
Li, Zhuo
Wang, Yirui
Fan, Wencheng
Luo, Sihan
Wang, Daiyue
Bai, Yuanming
Bian, Zhuan
He, Miao
Sun, Liangdan
author_sort Yu, Yafen
collection PubMed
description BACKGROUND: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial birth malformations in humans and are generally classified as nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Genome‐wide association studies (GWASs) of NSOFCs have demonstrated multiple risk loci and candidate genes; however, published risk factors are able to explain only a small fraction of the observed NSOFCs heritability. METHODS: Here, we performed GWASs of 1615 NSCPO cases and 2340 controls, and then conducted genome‐wide meta‐analyses of NSOFCs, totaling 6812 NSCL/P cases, 2614 NSCPO cases, and 19,165 controls from the Chinese Han population. RESULTS: We identify 47 risk loci with genome‐wide p (meta)‐value <5.0 × 10(−8), 5 risk loci (1p32.1, 3p14.1, 3p14.3, 3p21.31, and 13q22.1) of which are new. All of the 47 susceptibility loci conjointly account for 44.12% of the NSOFCs’ heritability in the Chinese Han population. CONCLUSION: Our results improve the comprehending of genetic susceptibility to NSOFCs and provide new views into the genetic etiology of craniofacial anomalies.
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spelling pubmed-105683892023-10-13 Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population Yu, Yafen Zhen, Qi Chen, Weiwei Yu, Yanqin Li, Zhuo Wang, Yirui Fan, Wencheng Luo, Sihan Wang, Daiyue Bai, Yuanming Bian, Zhuan He, Miao Sun, Liangdan Mol Genet Genomic Med Original Articles BACKGROUND: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial birth malformations in humans and are generally classified as nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Genome‐wide association studies (GWASs) of NSOFCs have demonstrated multiple risk loci and candidate genes; however, published risk factors are able to explain only a small fraction of the observed NSOFCs heritability. METHODS: Here, we performed GWASs of 1615 NSCPO cases and 2340 controls, and then conducted genome‐wide meta‐analyses of NSOFCs, totaling 6812 NSCL/P cases, 2614 NSCPO cases, and 19,165 controls from the Chinese Han population. RESULTS: We identify 47 risk loci with genome‐wide p (meta)‐value <5.0 × 10(−8), 5 risk loci (1p32.1, 3p14.1, 3p14.3, 3p21.31, and 13q22.1) of which are new. All of the 47 susceptibility loci conjointly account for 44.12% of the NSOFCs’ heritability in the Chinese Han population. CONCLUSION: Our results improve the comprehending of genetic susceptibility to NSOFCs and provide new views into the genetic etiology of craniofacial anomalies. John Wiley and Sons Inc. 2023-06-16 /pmc/articles/PMC10568389/ /pubmed/37326468 http://dx.doi.org/10.1002/mgg3.2226 Text en © 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Original Articles
Yu, Yafen
Zhen, Qi
Chen, Weiwei
Yu, Yanqin
Li, Zhuo
Wang, Yirui
Fan, Wencheng
Luo, Sihan
Wang, Daiyue
Bai, Yuanming
Bian, Zhuan
He, Miao
Sun, Liangdan
Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title_full Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title_fullStr Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title_full_unstemmed Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title_short Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population
title_sort genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the chinese han population
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568389/
https://www.ncbi.nlm.nih.gov/pubmed/37326468
http://dx.doi.org/10.1002/mgg3.2226
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