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  • Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population

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Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population
  1. C Srichomthong1,
  2. P Siriwan2,
  3. V Shotelersuk1
  1. 1Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
  2. 2Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University
  1. Correspondence to:
 Dr Vorasuk Shotelersuk
 Head of Division of Medical Genetics and Metabolism, Department of Paediatrics, Sor Kor Building 11th floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand; vorasuk.schula.ac.th

Abstract

Background: Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or without cleft palate (CL/P) in some populations.

Objective: To investigate Thai CL/P patients and relative for a 820G→A polymorphism.

Subjects: 192 CL/P Thai patients, 177 of their mothers, 73 of their fathers, and 278 controls.

Results: There were significant differences in the frequency distributions of both genotypes (p = 0.02) and alleles (p = 0.04) among probands as compared with the control group. The odds ratio calculated for the patients having the GG genotype compared with the other two genotypes (GA and AA) was 1.67 (95% confidence interval, 1.13 to 2.47). This pattern is consistent with a recessive effect of the G allele. No association between any of the parents’ genotypes and CL/P was found. The IRF6 820G→A was responsible for 16.7% of the genetic contribution to CL/P.

Conclusions: The findings confirm that IRF6 820G→A is associated with CL/P.

  • CL/P, cleft lip/palate
  • cleft lip
  • IRF6 gene mutation

https://doi.org/10.1136/jmg.2005.032235

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    Footnotes

    • Competing interests: none declared