Table 2.

Risk estimates and P values from RINT1 case–control mutation screening

AnalysisCrude OR (95% CI)Adj. OR (95% CI) (ethnicity)Adj. OR (95% CI) (center)Adj.d OR (95% CI) (ethnicity and center)
All rare variants (incl. C0)2.24 (1.14–4.38)2.31 (1.17–4.55)2.31 (1.16–4.62)2.33 (1.16–4.65)
P = 0.019P = 0.016P = 0.018P = 0.017
PolyPhen2 (prob damaging)3.73 (1.06–13.13)4.00 (1.13–14.18)3.10 (0.85–11.30)3.19 (0.88–11.59)
P = 0.040P = 0.032P = 0.086P = 0.078
Align-GVGD (> C0)a3.17 (1.28–7.85)2.96 (2.23–3.92)3.00 (1.18–7.63)3.08 (1.22–7.81)
P = 0.013P = 0.0094P = 0.021P = 0.018
PolyPhen2 or Align-GVGDb3.32 (1.35–8.18)3.53 (1.42–8.74)3.16 (1.25–7.98)3.24 (1.29–8.17)
P = 0.0091P = 0.0065P = 0.015P = 0.013
PolyPhen2 and Align-GVGDc3.44 (0.97–12,23)3.66 (1.02–13.12)2.80 (0.76–10.36)2.89 (0.78–10.64)
P = 0.056P = 0.046P = 0.12P = 0.11
  • aIn the binary analysis, only carriers of a missense substitution with grade > C0 or of an in-frame deletion (IFR) were considered.

  • bCarriers of an IFR or carriers of a missense substitution with grade > C0, or predicted as probably damaging by PolyPhen2.

  • cCarriers of an IFR or carriers of a missense substitution with grade > C0 and predicted as probably damaging by PolyPhen2.

  • dOR are adjusted for race or ethnicity (Caucasian, East Asian, African American or Latina) and study center.