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TFIP11 – Dental Caries

Recent candidate gene studies have provided modest evidence supporting an association between TFIP11 and dental caries. A meta‐analysis of 3,600 individuals identified significant gene–by–fluoride interaction effects, with one study reporting suggestive associations for multiple TFIP11 variants in child cohorts (PMID:25373699) and a subsequent study in 96 Polish children reinforcing the role of enamel matrix genes in caries susceptibility (PMID:29068589). Although the absolute number of affected probands or detailed segregation data were not described, the genetic evidence remains limited yet noteworthy given the environmental modulation by fluoride exposure.

Functional studies have demonstrated that TFIP11 participates in spliceosome recycling and RNA splicing fidelity, as shown in yeast models where perturbation of this gene affects spliceosome turnover (PMID:16945917; PMID:19581443). A representative variant, for example, c.123A>T (p.Lys41Asn), illustrates the type of coding change that may be further investigated in this gene, although such an allele has not yet been directly linked to dental caries in the published reports. Overall, while TFIP11’s mechanistic role in splicing provides a plausible biological basis, the clinical association with dental caries is currently rated as limited.

Key Take‑Home Sentence: TFIP11 variants offer a promising yet preliminary marker for dental caries risk, particularly in contexts of low fluoride exposure, thereby supporting further study in both genetic diagnostics and precision dental care.

References

  • Human Genetics • 2015 • Effects of enamel matrix genes on dental caries are moderated by fluoride exposures PMID:25373699
  • Advances in Clinical and Experimental Medicine • 2017 • Chosen single nucleotide polymorphisms (SNPs) of enamel formation genes and dental caries in a population of Polish children PMID:29068589
  • Proceedings of the National Academy of Sciences of the United States of America • 2006 • Inhibition of a spliceosome turnover pathway suppresses splicing defects PMID:16945917
  • Genetics • 2009 • Spp382p interacts with multiple yeast splicing factors, including possible regulators of Prp43 DExD/H-Box protein function PMID:19581443

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Association supported by two independent candidate gene studies in diverse populations; meta-analysis of 3,600 individuals and a Polish cohort of 96 children demonstrated modest significance and gene–by–environment interactions ([PMID:25373699], [PMID:29068589]).

Genetic Evidence

Limited

Multiple SNP associations for TFIP11 were noted with suggestive p-values in both adult and pediatric cohorts, yet no definitive causal variants have been reported.

Functional Evidence

Moderate

TFIP11’s role in spliceosome recycling and RNA splicing fidelity has been functionally validated in yeast models, offering a plausible mechanistic link, although direct evidence connecting these functions to dental caries is still lacking ([PMID:16945917], [PMID:19581443]).