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Journal of Dental Research
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CLINICAL

Association between IRF6 SNPs and Oral Clefts in West China

Y. Huang1,2, J. Wu1,4, J. Ma2, T.H. Beaty3, J.W. Sull3, L. Zhu4, D. Lu1, Y. Wang4, T. Meng1,4,* and B. Shi1,4,*

1 State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu 610041, P.R. China;
2 Dept. of Stomatology, Ningxia Medical University Affiliated Hospital, Ningxia Province, YinChuan, P.R. China;
3 Bloomberg School of Public Health, Johns Hopkins University, 615 N. Wolfe St., Baltimore, MD, USA; and
4 Dept. of Cleft Lip and Palate Surgery, West China College of Stomatology, Sichuan University, No. 14, Section 3, Ren Min Nan Road, Chengdu 610041, P.R. China

Correspondence: * shibingcn{at}sina.com and menglj123{at}126.com

Analyses of previous data have confirmed the contribution of the IRF6 gene to susceptibility to non- syndromic oral clefts (NSOC) in some populations. We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers for 206 complete trios for these three SNPs), and 174 control individuals. We found strong evidence of over- and under-transmission of the C allele (the Val allele) at rs2235371, and the C allele at rs2235375 in cleft case-parent trios (P = 0.013 and P = 0.000, respectively). There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at rs2235371 and rs2235375. Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations.

Key Words: oral cleft • single nucleotide polymorphism (SNP) • interferon regulatory factor 6 (IRF6) • west Chinese population

Abbreviations: CL, cleft lip only • CP, cleft palate only • CLP, cleft lip with palate • CL/P, cleft lip with or without palate

Journal of Dental Research, Vol. 88, No. 8, 715-718 (2009)
DOI: 10.1177/0022034509341040
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