SNPs at TP63 gene was specifically associated with right‐side cleft lip in Han Chinese population
- 20 July 2020
- journal article
- research article
- Published by Wiley in Oral Diseases
- Vol. 27 (3), 559-566
- https://doi.org/10.1111/odi.13566
Abstract
Objectives Non‐syndromic cleft lip with or withoutpalateis one of the most common birth malformations. TP63 and GREM1 were recently reported to be associated with NSCL/P. However, there were few studies focusedon theirassociationsin non‐syndromic cleft lip only (NSCLO). Design Initial screening and replication in large cohorts were used to locate the susceptible SNPs of TP63 and GREM1 .Firstly, variations were screened among 192 NSCLO cases by the Sanger sequencing. Then, we selected fiveassociated SNPs in initial screeningphase andreplicatedamong1006 NSCLO cases and 1823 normal controls. Results Initial Chi‐square test showed that rs7653848,rs7624324,rs6790167 and rs1345186inTP63 and rs2280738 in GREM1 achieved statistical significance (pTP63 and GREM1 , which indicated that TP63 is a promising susceptible gene for RCL in Chinese population.Andfurther confirmed the different etiology in the right‐sided cleft lip, left‐sided cleft lip and bilateral cleft lip of NSCLO. This will give new reference for the future research and genetic counseling.This publication has 40 references indexed in Scilit:
- Roles of BMP Signaling Pathway in Lip and Palate DevelopmentPublished by S. Karger AG ,2012
- Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndromeEMBO Molecular Medicine, 2012
- Cleft lip and palate: understanding genetic and environmental influencesNature Reviews Genetics, 2011
- A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasiasJCI Insight, 2010
- A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Nature Genetics, 2010
- Cleft lip and palateThe Lancet, 2009
- A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritanceJournal of Medical Genetics, 2009
- Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft LipAmerican Journal of Human Genetics, 2009
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- A mutation of the p63 gene in non-syndromic cleft lipJournal of Medical Genetics, 2006