Luka Hočevar1, Jernej Kovač2, Katarina Trebušak Podkrajšek3, Saba Battelino4, Alenka Pavlič5. 1. Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, Slovenia. 2. University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, Ljubljana, Slovenia. 3. University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, Ljubljana, Slovenia; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, Slovenia. 4. Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Zaloška 2, Ljubljana, Slovenia; Department of Otorhinolaryngology, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, Slovenia. 5. Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, Slovenia; Department of Paediatric and Preventive Dentistry, University Medical Centre Ljubljana, Zaloška 2, Ljubljana, Slovenia. Electronic address: alenka.pavlic@mf.uni-lj.si.
Abstract
OBJECTIVE: The present study searched for evidence of possible associations between some genetic factors that could affect the development of molar-incisor hypomineralisation (MIH). METHODS: In 113 patients who were surgically treated at an Otorhinolaryngology and Cervicofacial Surgery Clinic (ORL) during early childhood, human leukocyte antigen (HLA) DQ2 and DQ8 haplotypes and single nucleotide polymorphisms (SNP) of eight amelogenesis-related genes were searched in genomic DNA. Genotypes were determined by high resolution melting (HRM), TaqMan genotyping assays, and Sanger sequencing. Association between MIH and the HLA DQ2 and DQ8 alleles was tested using a univariate logistic regression. The significance of genetic variants was analysed using the Cochran-Armitage tests for trend and the Fisher exact tests. RESULTS: We identified MIH in 22 (19.5 %) of the 113 children. Among the evaluated genetic variants, SNP rs2245803 in the MMP20 gene in a homozygous form in a recessive model was associated with MIH development (OR, 2.796; 95 %CI, 1.075 - 4.783; p = 0.0496) with the genotype distribution of TT(3), TG(6) or GG(13) in children with MIH and distribution of TT(18), TG(42) or GG(31) in children without MIH. CONCLUSIONS: While the aetiology of MIH remains unclear, our findings suggest that variants of genes associated with amelogenesis may play important roles in susceptibility to MIH.
OBJECTIVE: The present study searched for evidence of possible associations between some genetic factors that could affect the development of molar-incisor hypomineralisation (MIH). METHODS: In 113 patients who were surgically treated at an Otorhinolaryngology and Cervicofacial Surgery Clinic (ORL) during early childhood, human leukocyte antigen (HLA) DQ2 and DQ8 haplotypes and single nucleotide polymorphisms (SNP) of eight amelogenesis-related genes were searched in genomic DNA. Genotypes were determined by high resolution melting (HRM), TaqMan genotyping assays, and Sanger sequencing. Association between MIH and the HLA DQ2 and DQ8 alleles was tested using a univariate logistic regression. The significance of genetic variants was analysed using the Cochran-Armitage tests for trend and the Fisher exact tests. RESULTS: We identified MIH in 22 (19.5 %) of the 113 children. Among the evaluated genetic variants, SNP rs2245803 in the MMP20 gene in a homozygous form in a recessive model was associated with MIH development (OR, 2.796; 95 %CI, 1.075 - 4.783; p = 0.0496) with the genotype distribution of TT(3), TG(6) or GG(13) in children with MIH and distribution of TT(18), TG(42) or GG(31) in children without MIH. CONCLUSIONS: While the aetiology of MIH remains unclear, our findings suggest that variants of genes associated with amelogenesis may play important roles in susceptibility to MIH.