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. 2005 Jan;76(1):180-3.
doi: 10.1086/427344. Epub 2004 Nov 19.

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population

Luca Scapoli  1 , Annalisa Palmieri, Marcella Martinelli, Furio Pezzetti, Paolo Carinci, Mauro Tognon, Francesco Carinci
Affiliations

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population

Luca Scapoli et al. Am J Hum Genet. 2005 Jan.

Abstract

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects, but its etiology is largely unknown. It is very likely that both genetic and environmental factors contribute to this malformation. Mutations in the gene for interferon regulatory factor 6 (IRF6) have been shown to be the cause of Van der Woude syndrome, a dominant disorder that has CL/P as a common feature. Recently, it has been reported that genetic polymorphisms at the IRF6 locus are associated with nonsyndromic CL/P, with stronger association in Asian and South American populations. We investigated four markers spanning the IRF6 locus, using the transmission/disequilibrium test. A sample of 219 Italian triads of patients and their parents were enrolled in the study. Strong evidence of linkage disequilibrium was found between markers and disease in both single-allele (P=.002 at marker rs2235375) and haplotype (P=.0005) analyses. These findings confirm the contribution of IRF6 in the etiology of nonsyndromic CL/P and strongly support its involvement in populations of European ancestry.

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References

Electronic-Database Information

    1. Human Genome Mapping Project, http://www.rfcgr.mrc.ac.uk/Registered/Webapp/glue/ (for GLUE Web-based interface with linkage computer programs)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for nonsyndromic CL/P and Van der Woude syndrome)
    1. dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/ (for markers rs1319435, rs2013162, rs2235375, and rs2235543)
    1. UCSC Human Genome Browser, http://genome.ucsc.edu/cgi-bin/hgGateway (for July 2003 assembly)

References

    1. Abecasis GR, Cookson WO (2000) GOLD—graphical overview of linkage disequilibrium. Bioinformatics 16:182–18310.1093/bioinformatics/16.2.182 - DOI - PubMed
    1. Carinci F, Pezzetti F, Scapoli L, Martinelli M, Avantaggiato A, Carinci P, Padula E, Baciliero U, Gombos F, Laino G, Rullo R, Cenzi R, Carls F, Tognon M (2003) Recent developments in orofacial cleft genetics. J Craniofac Surg 14:130–14310.1097/00001665-200303000-00002 - DOI - PubMed
    1. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143–15310.1016/S0092-8674(00)81646-3 - DOI - PubMed
    1. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115–12110.1002/gepi.10252 - DOI - PubMed
    1. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, et al (2002) Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285–28910.1038/ng985 - DOI - PMC - PubMed

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