HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Srichomthong, C Articles by Shotelersuk, V Search for Related Content PubMed PubMed Citation Articles by Srichomthong, C Articles by Shotelersuk, V Pubmed/NCBI databases Gene GEO Profiles HomoloGene UniGene Medline Plus Health Information Cleft Lip and Palate Head and Brain Malformations Topic Collections JMG Online mutation reports

Significant association between IRF6 820GA and non-syndromic cleft lip with or without cleft palate in the Thai population

¹ Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
² Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University

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.s{at}chula.ac.th] 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 820GA 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 820GA was responsible for 16.7% of the genetic contribution to CL/P.

Conclusions: The findings confirm that IRF6 820GA is associated with CL/P.

Abbreviations: CL/P, cleft lip/palate

Keywords: cleft lip; IRF6 gene mutation

This article has been cited by other articles:

				B. T. Chiquet, S. H. Blanton, A. Burt, D. Ma, S. Stal, J. B. Mulliken, and J. T. Hecht Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate Hum. Mol. Genet., July 15, 2008; 17(14): 2212 - 2218. [Abstract] [Full Text] [PDF]

				M. Pegelow, M. Peyrard-Janvid, M. Zucchelli, I. Fransson, O. Larson, J. Kere, C. Larsson, and A. Karsten Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes Eur J Orthod, April 1, 2008; 30(2): 169 - 175. [Abstract] [Full Text] [PDF]

				M. L. Cunningham Is Cleft Lip and Palate Ever Isolated?: Phenotype Is in the Eye of the Beholder Arch Pediatr Adolesc Med, August 1, 2007; 161(8): 811 - 812. [Full Text] [PDF]

				P Leoyklang, P Siriwan, and V Shotelersuk A mutation of the p63 gene in non-syndromic cleft lip. J. Med. Genet., June 1, 2006; 43(6): e28 - e28. [Abstract] [Full Text] [PDF]