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 Jun;118(3):317-9. doi: 10.1111/j.1600-0722.2010.00741.x.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Case-Control Studies
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 10 / genetics*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Cytosine
  • Estonia
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Guanine
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Risk Factors
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Thymine

Substances

  • Guanine
  • Cytosine
  • Adenine
  • Thymine