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The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Association between multiple genetic polymorphisms and molar-incisor hypomineralization: a population-based study.

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Genetic variants in the estrogen receptor (ESR) gene are linked to molar-incisor hypomineralization (MIH) in children. This finding supports a polygenic model for MIH, indicating multiple genes contribute to its development.

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Area of Science:

  • Genetics
  • Pediatric Dentistry
  • Dental Public Health

Background:

  • Molar-incisor hypomineralization (MIH) is linked to genetic variants in enamel development, immune response, and hormone pathways.
  • MIH is considered a multifactorial condition influenced by both genetic and environmental factors.
  • Previous research suggests multiple genes with small individual effects contribute to MIH pathogenesis.

Purpose of the Study:

  • To investigate the association between specific single nucleotide polymorphisms (SNPs) and the occurrence of MIH.
  • To evaluate the role of genetic variations in genes like IL-6, ESR, VDR, and 5-HTT in MIH development.

Main Methods:

  • A case-control study involving 90 children with MIH and 262 controls.
  • MIH diagnosis confirmed by calibrated examiners using European Academy of Paediatric Dentistry (EAPD) criteria.
  • Genotyping of SNPs in IL-6, ESR, VDR, and 5-HTT genes using real-time polymerase chain reaction from oral mucosa cells.

Main Results:

  • A significant association was found between the rs4986938 polymorphism in the ESR2 gene and MIH.
  • Children with CT/TT genotypes at rs4986938 showed significantly lower odds of MIH compared to CC genotype (OR=0.57).
  • No significant associations were observed for other tested SNPs in IL-6, VDR, and 5-HTT genes.

Conclusions:

  • Genetic polymorphism in the estrogen receptor (ESR) gene is associated with molar-incisor hypomineralization.
  • The findings support the hypothesis of polygenic involvement in the etiology of MIH.
  • This suggests a complex interplay of multiple genes in the development of MIH.