Nikopensius Tiit, Birnbaum Stefanie, Ludwig Kerstin U, Jagomägi Triin, Saag Mare, Herms Stefan, Knapp Michael, Hoffmann Per, Nöthen Markus M, Metspalu Andres, Mangold Elisabeth
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Eur J Oral Sci. 2010 Jun;118(3):317-9. doi: 10.1111/j.1600-0722.2010.00741.x.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. Recently, two novel susceptibility loci and three suggestive loci for NSCL/P were identified by a genome-wide association scan (GWAS) in a German population with subsequent independent replication in a mixed European population. The aim of the present study was to investigate whether these newly detected loci confer similar effects in the North-East European Baltic population. A total of 101 NSCL/P patients and 254 controls from Estonia were included. A significant association was observed for rs7078160 (P = 0.0016) at chromosome 10q25, which confirms the association of this locus with NSCL/P in the Baltic population. No significant association was found for the other four loci, a result that may have been attributable to the limited power of the sample.
Birth Defects Res A Clin Mol Teratol. 2010-7
Birth Defects Res A Clin Mol Teratol. 2012-1
Birth Defects Res A Clin Mol Teratol. 2014-1
medRxiv. 2025-2-12
Plast Surg Int. 2012