Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

Hum Mol Genet · 2015 · PMC4424954 · PMID 25701875

Europe PMC DOI

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did not reach statistical significanceP = 8.9 × 10 −10actually significant

Individually, these did not reach statistical significance, but when information was combined for all rare variants with an allele frequency of <1%, the results were highly significant (OR = 3.72; 95% CI = 2.38–5.82; P = 8.9 × 10 −10 ).

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highly significantP = 3.1 × 10 −3actually significant

There was a highly significant association between the p.R279C variant (rs117068593) and PDB in the sequenced samples compared with 1000 Genome controls (OR = 0.60; 95% CI = 0.43–0.84; P = 3.1 × 10 −3 ) and when compared with NHLBI controls (OR = 0.50; 95% CI = 0.38–0.67; P = 2.0 × 10 −6 ).

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