Dental & Oral Health

3'UTR variant in the beta-defensin 1 gene that disrupts a microRNA binding site, reducing DEFB1 expression and increasing susceptibility to periodontitis and dental caries

Intronic variant in the ENAM enamelin gene associated with altered dental caries susceptibility across multiple populations, with the reference A allele linked to increased caries risk and the alternate G allele to a protective effect

Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T cells, increasing aggressive periodontitis risk

Intronic variant in amelogenin X-linked gene affecting enamel mineralization and susceptibility to dental caries and developmental enamel defects

Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expression during enamel maturation and susceptibility to dental caries in primary dentition

Intronic variant in kallikrein-4 that encodes the enamel maturation protease; A allele associated with increased caries susceptibility and molar hypomineralization in permanent dentition

Intronic IRF6 variant associated with non-syndromic cleft lip with or without cleft palate susceptibility in multiple populations, particularly East Asian ancestry groups

Intronic variant near the KLK4 enamel-maturation protease gene associated with increased dental caries susceptibility in primary and permanent dentition

Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral acid buffering and increasing susceptibility to dental caries

Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk allele is associated with a 28% increased risk of periodontitis through altered neutrophil defensin availability in the gingival immune response

Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene inducibility, producing more carcinogen-activating enzyme in oral and airway tissues upon tobacco smoke or dietary PAH exposure