Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population

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Abstract

Objective: To further confirm the association between two IRF6 single nucleotide polymor- phisms and nonsyndromic cleft lip with or without cleft palate in a Chinese population. Participants: A total of 106 nonsyndromic cleft lip with or without cleft palate case trios and 129 control trios. Intervention: Two IRF6 single nucleotide polymorphisms, rs2235371 and rs642961, were genotyped for all case and control families. Case-control analysis and family-based linkage analysis were both performed for the two single nucleotide polymorphisms. Results: The genotype and allele frequencies of rs2235371 (odds ratioAGþAA vs. GG, 0.581; 95% confidence interval, 0.345 to 0.976; P ¼ .039) and rs642961 (odds ratioAGþAA vs. GG, 5.389; 95% confidence interval, 2.936 to 9.893; P¼5e-08) were significantly higher in nonsyndromic cleft lip with or without cleft palate patients compared with controls. There was an obvious dosage effect of allele A at rs642961. The transmission of a major allele (G) of rs2235371 and a minor allele (A) of rs642961 was in disequilibrium (P , .05) in complete case-parent trios. The association between the two single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate was confirmed by the Family-Based Association Test for rs642961 (P ¼ .008), but there was no significance for rs2235371 (P¼0.057). Haplotype analysis found that rs2235371 G/ rs642961 A haplotype increased the risk of nonsyndromic cleft lip with or without cleft palate (P¼ 2.42e-07); whereas, rs2235371 A/rs642961 G haplotype reduced the risk of nonsyndromic cleft lip with or without cleft palate (P ¼ 4.37e-05). No evidence of linkage disequilibrium was found between the two single nucleotide polymorphisms (D0 ¼ 0.303, r2 ¼0.017). Conclusion: Our results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population. KEY

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Zhou, Q., Li, M., Zhu, W., Guo, J., Wang, Y., Li, Y., & Li, S. (2013). Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population. Cleft Palate-Craniofacial Journal, 50(5), 570–576. https://doi.org/10.1597/12-234

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