Table 1.
KCC2 (SLC12A5) variants detected in the IGE cohort
| Non-synonymous variants detected in the ‘hotspot’ | Detection of variants in IGE cohort | Control data | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Quebec population controls (Phase 1: 475 controls) | Quebec population controls (Total: 1,214 controls) | |||||||||||
| mRNA (NM_020708.4) | Protein (NP_065759) | Number of probands | Number of alleles | Allele frequency (%) | Number of alleles | Allele frequency (%) | P-value | Odds ratio | Number of alleles | Allele frequency (%) | P-value | Odds ratio |
| c.2855 G>A | p.R952H | 5/380 | 5/760 | 0.66 | 2/950 | 0.21 | 0.253 | 3.14 CI95 [0.5–33.0] | 5/2,428 | 0.21 | 0.065 | 3.21 CI95 [0.7–14.0] |
| c.3145 C>T | p.R1049C | 3/380 | 3/760 | 0.39 | 0/950 | 0.00 | 0.088 | Inf CI95 [0.5-Inf] | 1/2,428 | 4.12 × 10−4 | 0.044 | 9.61 CI95 [0.8–503.6] |
| Total number of non-synonymous alleles detected | 8/380 | 8/760 | – | 2/950 | – | 0.028 | 5.04 CI95 [1.0–48.8] | 6/2,428 | – | 7.50 × 10−3 | 4.29 CI95 [1.3–15.1] | |