IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population

• Published in: Brazilian journal of otorhinolaryngology 2018-07, Vol.84 (4), p.473-477
• Main Authors: Gurramkonda, Venkatesh Babu, Syed, Altaf Hussain, Murthy, Jyotsna, Lakkakula, Bhaskar V.K.S.
• Format: Article
• Language: English
• Subjects: Case-Control Studies; Cleft Lip - ethnology; Cleft Lip - genetics; Cleft Palate - ethnology; Cleft Palate - genetics; Female; Fendas orofaciais; Gene Frequency; Genetic Association Studies; Genotyping Techniques; Humans; India; Interferon Regulatory Factors - genetics; IRF6; Male; NSCL/P; Original; Orofacial clefts; OTORHINOLARYNGOLOGY; Polymorphism, Single Nucleotide - genetics; Risk Factors; SNP
• ISSN: 1808-8694; 1808-8686; 1808-8686
• DOI: 10.1016/j.bjorl.2017.05.011

Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without palate in a South Indian population. 173 unrelated nonsyndromic cleft lip with or without cleft palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03–2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04–1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44–12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Fatores de transcrição constituem uma família de proteínas muito diversa envolvida na ativação ou repressão da transcrição de um gene, em um determinado momento. Vários estudos usando modelos animais demonstraram o papel dos genes do fator de transcrição no desenvolvimento craniofacial. Nosso objetivo foi investigar a associação do polimorfismo IRF6 intron-6 na fenda labial não sindrômica com ou sem fenda palatina em uma população do sul da Índia. Um total de 173 pacientes com fenda labial não sindrômica com ou sem fenda palatina e 176 controles sem fendas foram genotipados para a variante IRF6 rs2235375 por amplificação alelo-específica utilizando o sistema KASPar de genotipagem de polimorfismo de nucleotídeo único. A associação entre o polimorfismo de nucleotídeo único Fator 6 Regulatório do Interferon(IRF6) intron-6 dbSNP208032210:g.G>C (rs2235375)