Model of analysis of NFKB1 rs28362491, NKX2-5 rs2277923, GATA4 rs11785481 and RANKL rs4531631 gene polymorphisms in patients with congenital heart disease and control subjects_
| Locus | Model of Analysis | Cases (n=43) | Controls (n=100) | OR (95% CI) | p Value | Corrected p Valuea | ||
|---|---|---|---|---|---|---|---|---|
| rs4531631 | risk per allele: | RR (%) | 33 (77.0) | RR (%) | 68 (68.0) | 0.61 (0.28-1.32) | 0.208 | 0.554 |
| Referenceb: G | 0; 1; 2 | RV (%) | 10 (23.0) | RV (%) | 29 (29.0) | |||
| Variantc: A | VV (%) | 0 (0.0) | VV (%) | 3 (3.0) | ||||
| VV vs. RR | RR | 33 | RR | 68 | 0.29 (0.02-5.82) | 0.550 | 0.554 | |
| VV | 0 | VV | 3 | |||||
| RV vs. RR | RR | 33 | RR | 68 | 0.71 (0.31-1.63) | 0.419 | 0.554 | |
| RV+VV vs. RR | RV RR | 10 33 | RV RR | 29 68 | 0.64 (0.28-1.47) | 0.292 | 0.554 | |
| RV+VV | 10 | RV+VV | 32 | |||||
| VV vs. RV+RR | RR+RV | 43 | RR+RV | 97 | 0.32 (0.02-1.47) | 0.554 | 0.554 | |
| VV | 0 | VV | 3 | |||||
| V vs. R | R (%) | 76 (88.0) | R (%) | 165 (82.5) | 0.62 (0.29-1.32) | 0.211 | 0.554 | |
| rs2277923 | risk per allele: | V (%) RR (%) | 10 (12.0) 7 (16.0) | V (%) RR (%) | 35 (17.5) 7 (7.0) | 0.42 (0.24-0.76) | 0.004 | 0.008 |
| Referenceb: G | 0; 1; 2 | RV (%) | 26 (61.0) | RV (%) | 44 (44.0) | |||
| Variantc: A | VV (%) | 10 (23.0) | VV (%) | 49 (49.0) | ||||
| VV vs. RR | RR | 7 | RR | 7 | 0.20 (0.06-0.71) | 0.015 | 0.023 | |
| RV vs. RR | VV RR | 10 7 | VV RR | 49 7 | 0.59 (0.19-1.87) | 0.369 | 0.369 | |
| RV | 26 | RV | 44 | |||||
| RV+VV vs. RR | RR | 7 | RR | 7 | 0.39 (0.13-1.18) | 0.123 | 0.148 | |
| RV+VV | 36 | RV+VV | 93 | |||||
| VV vs. RV+RR | RR+RV | 33 | RR+RV | 51 | 0.32 (0.14-0.71) | 0.004 | 0.008 | |
| V vs. R | VV R (%) | 10 40 (46.5) | VV R (%) | 49 58 (29.0) | 0.47 (0.28-0.79) | 0.004 | 0.008 | |
| V (%) | 46 (53.5) | V (%) | 142 (71.0) | |||||
| rs11785481 | risk per allele: | RR (%) | 36 (84.0) | RR (%) | 77 (77.0) | 0.65 (0.26-1.66) | 0.365 | 0.395 |
| Referenceb: C | 0; 1; 2 | RV (%) | 7 (16.0) | RV (%) | 23 (23.0) | |||
| Variantc: T | VV (%) | 0 (0.0) | VV (%) | 0 (0.0) | ||||
| VV vs. RR | RR | 36 | RR | 77 | NA | NA | NA | |
| VV | 0 | VV | 0 | |||||
| RV vs. RR | RR | 36 | RR | 77 | 0.65 (0.26-1.66) | 0.365 | 0.395 | |
| RV | 7 | RV | 23 | |||||
| RV+VV vs. RR | RR | 36 | RR | 77 | 0.65 (0.26-1.66) | 0.365 | 0.395 | |
| VV vs. RV+RR | RV+VV RR+RV | 7 43 | RV+VV RR+RV | 23 100 | NA | NA | NA | |
| VV | 0 | VV | 0 | |||||
| V vs. R | R (%) | 79 (92.0) | R (%) | 177 (88.5) | 0.68 (0.28-1.66) | 0.395 | 0.395 | |
| V (%) | 7 (8.0) | V (%) | 23 (11.5) | |||||
| rs29362491 | risk per allele: | RR (%) | 11 (26.0) | RR (%) | 9 (9.0) | 0.37 (0.19-0.70 | 0.003 | 0.009 |
| Referenceb: D | 0; 1; 2 | RV (%) | 27 (63.0) | RV (%) | 61 (61.0) | |||
| Variantc: I | VV (%) | 5 (12.0) | VV (%) | 30 (30.0) | ||||
| VV vs. RR | RR | 11 | RR | 9 | 0.14 (0.04-0.50) | 0.001 | 0.006 | |
| VV | 5 | VV | 30 | |||||
| RV vs. RR | RR | 11 | RR | 9 | 0.36 (0.13-0.98) | 0.040 | 0.040 | |
| RV+VV vs. RR | RV RR | 27 11 | RV RR | 61 9 | 0.29 (0.11-0.76) | 0.009 | 0.014 | |
| RV+VV | 32 | RV+VV | 91 | |||||
| VV vs. RV+RR | RR+RV | 38 | RR+RV | 70 | 0.31 (0.11-0.86) | 0.019 | 0.023 | |
| VV | 5 | VV | 30 | |||||
| V vs. R | R (%) | 49 (57.0) | R (%) | 79 (39.5) | 0.49 (0.30-0.82) | 0.006 | 0.012 | |
| V (%) | 37 (43.0) | V (%) | 121 (60.5) | |||||
Primer sequences of NFKB1 rs28362491, NKX2-5 rs2277923, GATA4 rs11785481 and RANKL rs4531631 gene polymorphisms_
| Locus | Primer Sequences (5’>3’) | Products (bp) | Annealing Tm (°C) | Endonuclease |
|---|---|---|---|---|
| rs28362491 | F: TGG GCA CAA GTC GTT TAT GA | 281 | 62 | PfIMI |
| rs2277923 | F: CTG CCC GGA CAC ATC CAG | 301 | 62 | BpmI |
| rs11785481 | F: CTC CTC CTA GCC CTT GGT CA | 261 | 60 | HypCH4III |
| rs4531631 | F: CTG GAA GGC TGG CAG TAC TTT | 210 | 62 | ECoRV |