Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.
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.
Nikopensius
Tiit
T
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. tiitn@ebc.ee
Birnbaum
Stefanie
S
Ludwig
Kerstin U
KU
Jagomägi
Triin
T
Saag
Mare
M
Herms
Stefan
S
Knapp
Michael
M
Hoffmann
Per
P
Nöthen
Markus M
MM
Metspalu
Andres
A
Mangold
Elisabeth
E
D000225:Adenine; D016022:Case-Control Studies; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003596:Cytosine; D004957:Estonia; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006147:Guanine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D013941:Thymine
D006147:Guanine; D003596:Cytosine; D000225:Adenine; D013941:Thymine