Table 2.
Distribution of NLR pathway genetic variants in our primary cohort
| Variant | Genotype Frequency – Number (%) | ||
|---|---|---|---|
| No NEC (n=929) |
ALL NEC (n=86) |
Surgical NEC (n=26) |
|
| ATG16L1 rs2241880 AA | 284 (30.8)a | 36 (41.9) | 11 (42.3%) |
| AG | 438 (47.6) | 40 (46. 5) | 12 (46.2%) |
| GG | 199 (21.6) | 10 (11.6) | 3 (1.5%) |
| CARD8 rs2043211 AA | 445 (48) | 47 (54.7) | 16 (61.5%) |
| AT | 397 (42.9) | 31 (36) | 7 (26.9%) |
| TT | 84 (9.1) | 8 (9.3) | 3 (11.6%) |
| NLRP3 rs4353135 TT | 459 (49.7) | 44 (51.2) | 12 (46.2) |
| GT | 379 (41.1) | 33 (38.4) | 10 (38.5%) |
| 85 (9.2) | 9 (10.4) | 4 (15.3%) | |
| NLRP3 rs6672995 GG | 674 (72.6) | 60 (69.8) | 18 (69.2%) |
| AG | 231 (24.9) | 23 (26.7) | 6 (23.1%) |
| AA | 23 (2.5) | 3 (3.5) | 2 (7.7%) |
| NLRP3 rs35829419 CC | 864 (93.2) | 82 (95.3) | 25 (96.2%) |
| AC | 63 (6.8) | 3 (3.5) | 1 (3.8%) |
| AA | 1 (<0.1) | 1 (1.2) | 0 |
| NOD1 rs6958571 AA | 506 (54.8) | 46 (53.5) | 20 (77%) b |
| AC | 340 (36.8) | 36 (41.9) | 5 (19.2%) |
| CC | 77 (8.4) | 4 (4.6) | 1 (3.8%) |
| NOD2 rs2066844 CC | 871 (94.2) | 80 (93) | 24 (92.4%) |
| CT | 54 (5.8) | 6 (7) | 2 (7.6%) |
| TT | 1 (<0.1) | 0 | 0 |
Genotype frequencies of individual variants among infants with and without NEC are presented. rs number; reference SNP accession ID number. Genotyping results were unavailable for the following variants in our primary cohort; CARD8 and NOD2 (n=2 each), ATG16L1 (n=8), and NLRP3 rs4353135 and NOD1 (n=6 each). Among infants with NEC, data on surgical NEC was unavailable in 7 infants. Cochran Armitage trend test was used to determine associations between variants and NEC.
a
p=0.009,
b
p=0.042