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Chunk #25 — DISCUSSION

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Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
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CACNB2 (rs10740993) is a member of the voltage-gated calcium channel superfamily, and the third ion channel gene to be implicated in tooth eruption (24). Mutations in CACNB2 have been implicated in a form of Brugada syndrome, a genetic disease characterized by electrocardiogram abnormalities (25). Variants in the gene have also been associated with hypertension, systolic and diastolic blood pressure in GWASs (26). Interestingly, the top SNP from the present study is in LD (r2 > 0.7) with an SNP associated with blood pressure from the Ehret et al. study; the allele associated with earlier tooth eruption is on the same haplotype as the allele associated with lower blood pressure.