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Mol Genet Genomic Med ; 9(9): e1754, 2021 09.
Article in English | MEDLINE | ID: mdl-34310873

ABSTRACT

AIMS: Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome-wide association and linkage studies. Results were, however, not always replicated in different populations or methodologies. This study used case-control and family based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO) and nonsyndromic cleft lip and palate (NSCLP) among the Vietnamese population. METHODS: Two hundred and seventeen NSCL/P case-parent trios (one affected child and two parents), including 105 NSCLO and 112 NSCLP were involved for a family based design; and 273 ethnic and region-matched healthy controls with no cleft history in their families were recruited for a case-control design. Three SNPs consisting of TFAP2A (rs1675414 and rs303048) and 8q24 (rs987525) were genotyped using the TaqMan SNP genotyping assay. RESULTS: TFAP2A rs1675414 was associated with NSCLO, replicated by both case-control and family based tests. Other SNPs yielded no evidence of susceptibility to NSCL/P or two subtypes. CONCLUSION: The current investigation suggests an intriguing role of TFAP2A in the etiology of NSCLO among the Vietnamese population.


Subject(s)
Cleft Lip/genetics , Pedigree , Polymorphism, Single Nucleotide , Transcription Factor AP-2/genetics , Adult , Child , Cleft Lip/pathology , Female , Humans , Male , Vietnam
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