Table 4 Comparison of additive and recessive models for heterozygous, homozygous, and phased compound heterozygous pLoF and predicted deleterious missense variants for NOD2 variants (MAF < 5%) for Crohn’s Disease Risk in DiscovEHR.

From: Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

NOD2 gene burden variant class

Additive OR [95% CI]

Additive P-value

Recessive OR [95% CI]

Recessive P-value

Controls (ref/het/Hom)

Cases (ref/het/Hom)

pLoF only

2.69 [2.18–3.32]

5.50 × 10–20

20.74 [10.70–40.20]

2.67 × 10–19

51,501/3254/47

529/73/11

pLoF and predicted deleterious missense

2.38 [2.01–2.82]

4.60 × 10–24

13.15 [8.50–20.37]

7.21 × 10–31

48,253/6388/161

474/115/24

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