[HTML][HTML] Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay
ML Weber, HY Hsin, E Kalay, DŠ Brožková… - BMC medical …, 2014 - Springer
BMC medical genetics, 2014•Springer
Background Congenital forms of hearing impairment can be caused by mutations in the
estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the
ESRRB locus is linked to high caries experience in humans. Methods We tested for
association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was
expressed in whole saliva, if ESRRB was associated with the microhardness of the dental
enamel, and if ESRRB was expressed during enamel development of mice. Results Two …
estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the
ESRRB locus is linked to high caries experience in humans. Methods We tested for
association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was
expressed in whole saliva, if ESRRB was associated with the microhardness of the dental
enamel, and if ESRRB was expressed during enamel development of mice. Results Two …
Background
Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.
Methods
We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice.
Results
Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience.
Conclusions
The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.
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