Association between multiple genetic polymorphisms and molar-incisor hypomineralization: a population-based study

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.