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Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population
Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31–q32 from the Chinese populations, we screened the 4q31–q32 region for susceptibility genes in...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460900/ https://www.ncbi.nlm.nih.gov/pubmed/23029525 http://dx.doi.org/10.1371/journal.pone.0046477 |
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author | Wu, Di Wang, Mei Wang, Xingang Yin, Ningbei Song, Tao Li, Haidong Zhang, Feng Zhang, Yongbiao Ye, Zhenqing Yu, Jun Wang, Duen-Mei Zhao, Zhenmin |
author_facet | Wu, Di Wang, Mei Wang, Xingang Yin, Ningbei Song, Tao Li, Haidong Zhang, Feng Zhang, Yongbiao Ye, Zhenqing Yu, Jun Wang, Duen-Mei Zhao, Zhenmin |
author_sort | Wu, Di |
collection | PubMed |
description | Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31–q32 from the Chinese populations, we screened the 4q31–q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT), we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; I(m) = 2.46). The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD) in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome. |
format | Online Article Text |
id | pubmed-3460900 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-34609002012-10-01 Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population Wu, Di Wang, Mei Wang, Xingang Yin, Ningbei Song, Tao Li, Haidong Zhang, Feng Zhang, Yongbiao Ye, Zhenqing Yu, Jun Wang, Duen-Mei Zhao, Zhenmin PLoS One Research Article Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31–q32 from the Chinese populations, we screened the 4q31–q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT), we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; I(m) = 2.46). The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD) in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome. Public Library of Science 2012-09-28 /pmc/articles/PMC3460900/ /pubmed/23029525 http://dx.doi.org/10.1371/journal.pone.0046477 Text en © 2012 Wu et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Wu, Di Wang, Mei Wang, Xingang Yin, Ningbei Song, Tao Li, Haidong Zhang, Feng Zhang, Yongbiao Ye, Zhenqing Yu, Jun Wang, Duen-Mei Zhao, Zhenmin Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title | Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title_full | Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title_fullStr | Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title_full_unstemmed | Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title_short | Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population |
title_sort | maternal transmission effect of a pdgf-c snp on nonsyndromic cleft lip with or without palate from a chinese population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460900/ https://www.ncbi.nlm.nih.gov/pubmed/23029525 http://dx.doi.org/10.1371/journal.pone.0046477 |
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