Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients

• Published in: European journal of oral sciences Vol. 118; no. 3; pp. 317 - 319
• Main Authors: Nikopensius, Tiit, Birnbaum, Stefanie, Ludwig, Kerstin U., Jagomägi, Triin, Saag, Mare, Herms, Stefan, Knapp, Michael, Hoffmann, Per, Nöthen, Markus M., Metspalu, Andres, Mangold, Elisabeth
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-06-2010
• Subjects: Adenine; case-control association study; Case-Control Studies; Chromosome Mapping; Chromosomes, Human, Pair 10 - genetics; Cleft Lip - genetics; Cleft Palate - genetics; Cytosine; Dentistry; Estonia; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genotype; genotyping; Guanine; Heterozygote; Homozygote; Humans; Male; non-syndromic cleft lip with or without cleft palate; Polymorphism, Single Nucleotide - genetics; Risk Factors; single nucleotide polymorphism (SNP); Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Thymine; Estonia
• ISSN: 0909-8836; 1600-0722
• DOI: 10.1111/j.1600-0722.2010.00741.x

Nikopensius T, Birnbaum S, Ludwig KU, Jagomägi T, Saag M, Herms S, Knapp M, Hoffmann P, Nöthen MM, Metspalu A, Mangold E. Susceptibility locus for non‐syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. Eur J Oral Sci 2010; 118: 317–319. © 2010 The Authors. Journal compilation © 2010 Eur J Oral Sci
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.