Frequencies of non-synonymous NLRP7 variants in patients and controls of European descent
| Variant | Minor alleles | Controls (n=105–155) | ≥1 HM or ≥3 SA | ≥1 HM and another RW or ≥3 SA | ||||
| Patients (n=53) | χ2 | p Value | Patients (n=40) | χ2 | p Value | |||
| Q310R* | R | 0.006 | 0.018 | 1.261 | 0.024 | 2.043 | ||
| L311I* | I | 0.009 | 0.018 | 0.551 | 0.024 | 1.098 | ||
| V319I | I | 0.185 | 0.169 | 0.725 | 0.183 | 0.002 | ||
| M427T* | T | 0.009 | 0.009 | 0.987 | 0.012 | 0.038 | ||
| F430L* | L | 0.004 | 0.009 | 0.237 | 0.012 | 0.469 | ||
| A481T* | T | 0.064 | 0.132 | 6.24 | 0.012 | 0.159 | 7.435 | 0.0063 |
| G487E* | E | 0.035 | 0.056 | 0.899 | 0.061 | 1.076 | ||
| K511R* | R | 0.018 | 0.028 | 0.338 | 0.037 | 0.904 | ||
| Any of the above | 0.479 | 0.66 | 4.52 | 0.033 | 0.750 | 8.401 | 0.0037 | |
| Any rare NSV | 0.177 | 0.471 | 13.018 | 0.0003 | 0.550 | 19.198 | 0.000012 | |
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.