Table 3.
Human MLKL brace helix compound heterozygotes in CRMO vs healthy controls.
Population | Frequency of relevant compound Hetsa in CRMO | Frequency of relevant compound Hetsa in healthy controls | CRMO:Healthyb | 2 tailed P value (Fisher’s exact) | 2 tailed P value (chi square with Yate’s) |
---|---|---|---|---|---|
Globalc | 0.023 (3/128) | 0.0008 (2/2504) NIH 1KG | 29:1 | 0.001 | 0.0001 |
Europeand | 0.02 (2/101) | 0.002 (1/503) NIH 1KG | 10:1 | 0.074 | 0.1215 |
Europeand | 0.02 (2/101) | 0.0017 (25/14,542) QUT controls | 12:1 | n/a | 0.0022 |
aCombinations of R146Q – rs34515646, S132P – rs35589326 and G202*V – rs144526386 (Fig. 5e).
bFrequency ratio rounded to nearest whole number.
cCRMO patients and healthy controls of all ancestries included.
dCRMO patients and healthy controls of only European descent included.