Conflict of interest: The authors declare that they have no competing interests.
Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the polish population†
Article first published online: 22 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
Birth Defects Research Part A: Clinical and Molecular Teratology
Volume 94, Issue 1, pages 42–46, January 2012
How to Cite
Mostowska, A., Hozyasz, K. K., Wojcicka, K., Biedziak, B. and Jagodzinski, P. P. (2012), Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the polish population. Birth Defects Research Part A: Clinical and Molecular Teratology, 94: 42–46. doi: 10.1002/bdra.22862
- Issue published online: 10 JAN 2012
- Article first published online: 22 OCT 2011
- Manuscript Revised: 23 AUG 2011
- Manuscript Received: 21 JUL 2011
- Polish Ministry of Science and Higher Education. Grant Number: N N403 539240
- risk factor
Non-syndromic cleft lip and palate (CLP) is one of the most common birth defects. Recent genome-wide association studies (GWAS) have identified several novel risk loci associated with this craniofacial anomaly. Therefore, the objective of this report was to investigate the contribution of the top seven polymorphisms reaching genome-wide statistical significance in GWAS analyses in the Polish population.
METHODS and RESULTS
Nucleotide variants located at chromosomal regions 1p22.1, 10q25.3, 17q22, and 20q12 were tested in a group of 206 patients with nonsyndromic CLP and a properly matched control group. Significant results, which persisted even after Bonferroni correction (p < 0.0071), were observed for polymorphisms located at 10q25.3 (rs7078160 and rs4752028) and 17q22 (rs227731). Under a recessive model, both rs7078160 and rs4752028 were associated with a greater than fourfold increase in the risk of CLP (odds ratio [OR] = 4.536; 95% confidence interval [CI], 1.678–12.265; p = 0.0012 and OR = 4.573; 95% CI, 1.817–11.512; p = 0.0004, respectively). Polymorphism rs227731 increased the risk of CLP when analyzed under a dominant model (OR = 1.732; 95% CI, 0.184–2.253; p = 0.0044). Borderline association was alsoidentified for the 1p22.1 locus (rs481931). Moreover, 10q25.3 haplotypes were significantly associated with a susceptibility to CLP.
Our evaluation study confirmed a substantial association of polymorphisms located at chromosomal regions 10q25.3 and 17q22 with nonsyndromic CLP in the Polish population. Birth Defects Research (Part A), 2012. © 2011 Wiley Periodicals, Inc.