title: Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population.
abstract: OBJECTIVE
  The role was studied of multiple single nucleotide polymorphisms in tooth agenesis in the Hungarian population using a complex approach.
  
  
  METHODS
  Eight SNPs, PAX9 -912 C/T, PAX9 -1031 A/G, MSX1 3755 A/G, FGFR1 T/C rs881301, IRF6 T/C rs764093, AXIN2-8150 A/G, AXIN2-8434 A/G and AXIN2-30224 C/T, were studied in 192 hypodontia and 17 oligodontia cases and in 260 healthy volunteers. Case-control analysis was performed to test both allelic and genotypic associations as well as associations at the level of haplotypes. Multivariate exploratory Bayesian network-based multi-level analysis of relevance (BN-BMLA) as well as logistic regression analysis were performed.
  
  
  RESULTS
  Conventional statistics showed that PAX9 SNP -912 C/T and the MSX1 SNP changed the incidence of hypodontia, although after Bonferroni correction for multiple hypothesis testing, the effects were only borderline tendencies. Using a statistical analysis better suited for handling multiple hypotheses, the BN-BMLA, PAX9 SNPs clearly showed a synergistic effect. This was confirmed by other multivariate analyses and it remained significant after corrections for multiple hypothesis testing (p < 0.0025). The PAX9-1031-A-PAX9-912-T haplotype was the most relevant combination causing hypodontia. Interaction was weaker between PAX9 and MSX1, while other SNPs had no joint effect on hypodontia.
  
  
  CONCLUSIONS
  This complex analysis shows the important role of PAX9 and MSX1 SNPs and of their interactions in tooth agenesis, while IRF6, FGFR1 and AXIN2 SNPs had no detectable role in the Hungarian population. These results also reveal that risk factors in hypodontia need to be identified in various populations, since there is considerable variability among them.
authors: Department of Oral Biology.
authors: Gabriella
authors: G
authors: Jobbágy-Óvári
authors: Csilla
authors: C
authors: Páska
authors: Péter
authors: P
authors: Stiedl
authors: Bálint
authors: B
authors: Trimmel
authors: Dorina
authors: D
authors: Hontvári
authors: Borbála
authors: B
authors: Soós
authors: Péter
authors: P
authors: Hermann
authors: Zsuzsanna
authors: Z
authors: Tóth
authors: Bernadette
authors: B
authors: Kerekes-Máthé
authors: Dávid
authors: D
authors: Nagy
authors: Ildikó
authors: I
authors: Szántó
authors: Ákos
authors: Á
authors: Nagy
authors: Mihály
authors: M
authors: Martonosi
authors: Katalin
authors: K
authors: Nagy
authors: Éva
authors: É
authors: Hadadi
authors: Csaba
authors: C
authors: Szalai
authors: Gábor
authors: G
authors: Hullám
authors: Gergely
authors: G
authors: Temesi
authors: Péter
authors: P
authors: Antal
authors: Gábor
authors: G
authors: Varga
authors: Ildikó
authors: I
authors: Tarján
mesh_terms: D001499:Bayes Theorem; D005828:Genetics, Population; D006801:Humans; D006814:Hungary; D020641:Polymorphism, Single Nucleotide; D014076:Tooth Diseases / Q000235:genetics*