Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

• Published in: Biochemical and biophysical research communications Vol. 410; no. 4; pp. 732 - 736
• Main Authors: Shi, Jinna, Song, Tao, Jiao, Xiaohui, Qin, Chunlin, Zhou, Jin
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15-07-2011
• Subjects: 60 APPLIED LIFE SCIENCES; Adolescent; Adult; AP-2 protein; Asian Continental Ancestry Group - genetics; Association study; Candidate gene; Child; Child, Preschool; China; Cleft Lip - genetics; Cleft lip/palate; Cleft Palate - genetics; Congenital defects; Data processing; Environmental changes; ETIOLOGY; GENES; Genetic factors; Humans; INTERFERON; Interferon regulatory factor; Interferon Regulatory Factors - genetics; IRF6; LIGASES; Lip; Male; NSCLP; NUCLEOTIDES; ORAL CAVITY; POLYMERASE CHAIN REACTION; Polymorphism, Single Nucleotide; Single-nucleotide polymorphism; SNP; TFAP2A; Transcription Factor AP-2 - genetics; TRANSCRIPTION FACTORS; Young Adult; China; TFAP2A; OR; BOFS; CLP; CLO; Association study; NSCLP; MAF; SNP; HWE; LD; Candidate gene; IRF6; LDR; PCR
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1016/j.bbrc.2011.06.006

► IRF6 rs642961 polymorphism is intensively associated with NSCLP. ► IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. ► This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this northern Chinese population.