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Abstract

Objective

To further confirm the association between two IRF6 single nucleotide polymorphisms 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 ratio_{AG+AA vs. GG}, 0.581; 95% confidence interval, 0.345 to 0.976; P = .039) and rs642961 (odds ratio_{AG+AA vs. GG}, 5.389; 95% confidence interval, 2.936 to 9.893; P = 5e-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 = .008), but there was no significance for rs2235371 (P = 0.057). Haplotype analysis found that rs2235371 G/rs642961 A haplotype increased the risk of nonsyndromic cleft lip with or without cleft palate (P = 2.42e-07); whereas, rs2235371 A/rs642961 G haplotype reduced the risk of nonsyndromic cleft lip with or without cleft palate (P = 4.37e-05). No evidence of linkage disequilibrium was found between the two single nucleotide polymorphisms (D′ = 0.303, r² = 0.017).

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.

Keywords

association study case-parent trio interferon regulatory factor 6 (IRF6)nonsyndromic cleft lip with or without cleft palate (NSCL±P)single nucleotide polymorphisms (SNPs)

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Association between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in a Chinese Population

Abstract

Objective

Participants

Intervention

Results

Conclusion

Keywords

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References