Methods: DNA samples from 163 cases with molar-incisor hypomineralization and 82 unaffected controls were studied. Eleven markers in five genes [ameloblastin (AMBN), amelogenin (AMELX), enamelin (ENAM), tuftelin (TUFT1), and tuftelin-interacting protein 11 (TFIP11)] were genotyped by the TaqMan method. Chi-square was used to compare allele and genotype frequencies between case and controls with alpha at 0.05.
Results: Most cases (N=144) had severe hypomineralization phenotypes. Associations were found for several markers (Table).
Gene |
Marker |
p-value Alleles |
p-value Genotypes |
AMBN |
rs4694075 |
0.03 |
0.02 |
|
rs496502 |
0.16 |
0.05 |
AMELX |
rs946252 |
0.17 |
0.43 |
|
rs17878486 |
0.69 |
0.15 |
ENAM |
rs12640848 |
0.03 |
0.12 |
|
rs3796704 |
1.22e-012 |
0.00001 |
TUFT1 |
rs2337360 |
0.03 |
0.0001 |
|
rs4970957 |
3.285e-023 |
0.00001 |
|
rs3790506 |
1.64e-011 |
0.00001 |
TFIP11 |
rs5997096 |
0.0003 |
0.0001 |
|
rs134136 |
0.58 |
0.85 |
Conclusions: Several genes involved in enamel formation appear to contribute to molar-incisor hypomineralization. Future investigations should focus on the mechanisms underlying these contributions, which may be relevant for individual risks for caries or asthma.