Table 2

Frequencies of non-synonymous NLRP7 variants in patients and controls of European descent

VariantMinor allelesControls (n=105–155)≥1 HM or ≥3 SA≥1 HM and another RW or ≥3 SA
Patients (n=53)χ2p ValuePatients (n=40)χ2p Value
Q310R*R0.0060.0181.2610.0242.043
L311I*I0.0090.0180.5510.0241.098
V319II0.1850.1690.7250.1830.002
M427T*T0.0090.0090.9870.0120.038
F430L*L0.0040.0090.2370.0120.469
A481T*T0.0640.1326.240.0120.1597.4350.0063
G487E*E0.0350.0560.8990.0611.076
K511R*R0.0180.0280.3380.0370.904
Any of the above0.4790.664.520.0330.7508.4010.0037
Any rare NSV0.1770.47113.0180.00030.55019.1980.000012
  • A total of 155 controls were analysed for all variants, except M427T, F430L and K511R, for which 105 controls were analysed. A two by two contingency table was used for minor allele frequency higher than five in patients or controls, and Fisher exact test for values ≤5 (http://www.quantitativeskills.com/sisa/distributions/binomial.htm). Only significant p values are indicated (in bold). Rare NSV indicates those with minor allele frequency ≤0.064 and is indicated by asterisks.

  • HM, hydatidiform mole; n, number of subjects in each category; NSV, non-synonymous variant; RW, reproductive wastage; SA, spontaneous abortion.