Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study

Authors

  • Adrianna Mostowska Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
  • Kamil K. Hozyasz Department of Paediatrics, Institute of Mother and Child, Warsaw, Poland
  • Piotr Wójcicki University Clinic of Medical Academy in Wroclaw and Department of Plastic Surgery Specialist Medical Center in Polanica Zdroj, Poland
  • Barbara Biedziak Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
  • Joanna Wesoły Laboratory of High Throughput Technologies, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland
  • Anna Sowińska Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poland
  • Sylwia Matuszewska-Trojan Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
  • Paweł P. Jagodziński Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland

DOI:

https://doi.org/10.20883/medical.78

Keywords:

genome wide association study, cleft lip and palate, risk factors, polymorphisms

Abstract

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.

Downloads

Download data is not yet available.

References

Mostowska A, Hozyasz KK, Wojcicki P, Biedziak B, Paradowska P, Jagodzinski PP. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Birth Defects Res AClin Mol Teratol. 2010;88: 538–545.

Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12:167–178.

Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate. Am JMed Genet CSemin Med Genet. 2013;163: 246–258.

Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet. 2009;41:473–477.

Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. JPediatr. 2009;155:909–913.

Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MFB and ACA4. Nat Genet. 2010;42: 525–529.

Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42:24–26.

Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517.

Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci US A. 2009;106:9362–9367.

International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299–1320.

Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet. 2004;13 Spec No 1:R73–81.

Downloads

Published

2014-09-30

Issue

Section

The Rationale, Design and Methods of New Studies

How to Cite

1.
Mostowska A, Hozyasz KK, Wójcicki P, Biedziak B, Wesoły J, Sowińska A, et al. Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study. JMS [Internet]. 2014 Sep. 30 [cited 2024 Dec. 27];83(3):265-8. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/78