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Genome-wide Analyses Identify a Novel Risk Locus for Nonsyndromic Cleft Palate.
| Content Provider | Europe PMC |
|---|---|
| Author | He, M. Zuo, X. Liu, H. Wang, W. Zhang, Y. Fu, Y. Zhen, Q. Yu, Y. Pan, Y. Qin, C. Li, B. Yang, R. Wu, J. Huang, Z. Ge, H. Wu, H. Xu, Q. Zuo, Y. Chen, W. Qin, Y. Liu, Z. Chen, S. Zhang, H. Zhou, F. Yan, H. Yong, L. Chen, G. Liang, B. Cornell, R.A. Zong, L. Wang, L. Zou, D. Sun, L. Bian, Z. |
| Copyright Year | 2020 |
| Description | The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO). However, the genetic architecture underlying NSCPO is largely unknown. Here we performed a 2-stage genome-wide association study (GWAS) on NSCPO and replication analyses of selected variants in other NSOFCs from the Chinese Han population. We identified a novel locus (15q24.3) and a known locus (1q32.2) where variants in or near the gene reached genome-wide significance (2.80 × 10−13 < P < 1.72 × 10−08) in a test for association with NSCPO in a case-control design. Although a variant from 15q24.3 was found to be significantly associated with both NSCPO and NSCLP, the direction of estimated effects on risk were opposite. Our functional annotation of the risk alleles within 15q24.3 coupled with previously established roles of the candidate genes within identified risk loci in periderm development, embryonic patterning, and/or regulation of cellular processes supports their involvement in palate development and the pathogenesis of cleft palate. Our study advances the understanding of the genetic basis of NSOFCs and provides novel insights into the pathogenesis of NSCPO. |
| Abstract | The 3 major subphenotypes observed in patients with nonsyndromic orofacial clefts(NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip withpalate (NSCLP), and nonsyndromic cleft palate only (NSCPO). However, the geneticarchitecture underlying NSCPO is largely unknown. Here we performed a 2-stagegenome-wide association study (GWAS) on NSCPO and replication analyses ofselected variants in other NSOFCs from the Chinese Han population. We identifieda novel locus (15q24.3) and a known locus (1q32.2) where variants in or near thegene reached genome-wide significance (2.80 × 10−13
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| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC8256250&blobtype=pdf |
| ISSN | 00220345 |
| Volume Number | 99 |
| DOI | 10.1177/0022034520943867 |
| PubMed Central reference number | PMC8256250 |
| Issue Number | 13 |
| PubMed reference number | 32758111 |
| Journal | Journal of Dental Research [J Dent Res] |
| e-ISSN | 15440591 |
| Language | English |
| Publisher | SAGE Publications |
| Publisher Date | 2020-08-06 |
| Publisher Place | Sage CA: Los Angeles, CA |
| Access Restriction | Open |
| Rights License | © International & American Associations for Dental Research2020 |
| Subject Keyword | common variants functional variants genetic risk loci genome-wide association study orofacial clefts susceptibility |
| Content Type | Text |
| Resource Type | Article |
| Subject | Dentistry |
