Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population

Abstract

Background:Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P.Methods:Three single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population.Results:The investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34–0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls.Conclusion:Our study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population.

Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype

“…With regard to the second polymorphism, the rs1801552-T, a protective association between this variant in homozygous and non-syndromic cleft lip has been reported [ 27 ]. Recent studies indicated that patients with cleft lip had a higher incidence of tumors than the general population [ 28 , 29 ] and, moreover, family members with pathogenetic CDH1 mutation showed a higher incidence of cleft lip/palate than the general population (6–7% versus about 0.1%) [ 28 , 30 , 31 ].…”

Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models

“…The roles of other cell-cell adhesion proteins, such as E-cadherin (Cdh1), during palatogenesis remain to be elucidated (reviewed in Lough et al, 2017). Mutations in CDH1 have been associated with an increased risk for non-syndromic orofacial clefts in humans (Rafighdoost et al, 2013; Vogelaar et al, 2013; Bureau et al, 2014; Hozyasz et al, 2014; Brito et al, 2015; Ittiwut et al, 2016; Song et al, 2017). In mouse models, Cdh1 knockout is embryonic lethal and mutant embryos do not develop beyond E10.5 (Garcia-Higuera et al, 2008).…”

Zebrafish models of orofacial clefts

“…Strongly supporting this role, the destruction of periderm with a cell‐autonomous toxin leads to cleft palate in mouse (Richardson et al, ). Of note, variation near two other genes expressed in periderm, KRT18 and CDH1 , is also associated with risk OFC risk genes (Ittiwut et al, ; Leslie et al, ; Song et al, ). Genes encoding additional members of the gene regulatory network governing periderm differentiation are candidates to harbor mutations that cause or influence risk OFC (see KLF4 below).…”