Table 2.
Results of the included studies.
| NKX2-5 | Allelic Frequency | |||
|---|---|---|---|---|
| Belvis, 2009 [22] | c.172A > G 1 Glu21 = |
found in the 36% of healthy controls (30%AG and 6%GG) (G = 4.11e−1 *) |
Stroke with PFO: 21/34 (62%) vs. Stroke without PFO: 33/66 (50%) | p = 0.295 |
| c.182C > T 1 Arg25Cys |
not found in 100 screened alleles from healthy controls (T = 4.14e−3 *) |
Stroke with PFO: 0/34 (0%) vs. Stroke without PFO: 2/66 (3%) | p = 0.547 | |
| c.2357G > A 1 | not found in 100 screened alleles from healthy controls |
Stroke with PFO: 1/34 (3%) vs. Stroke without PFO: 0/66 (0%) | p = 0.340 | |
| c.2850C > A 1 | found in the 60% of healthy controls (40%AC and 20%AA) | Stroke with PFO: 19/34 (56%) vs. Stroke without PFO: 35/66 (53%) | p = 0.835 | |
| Elliott, 2003 [23] | - | - | No mutations found in PFO patients | |
| Chromosome 4q25 | ||||
| Bollmann, 2010 [24] | chr4:110789013C > T rs2200733 rs10033464 | T = 0.184 * | AF without PFO vs. AF with PFO: OR 0.610, 95% CI 0.378–0.984 No association with PFO |
p = 0.043 |
| GATA4 | ||||
| Marjaneh, 2011 [25] | c.1647A > G Ser377Gly 1 |
G = 0.104 * | PFO (with or without stroke/TIA): 46/183 (25%) vs. controls: 73/340 (21%) | p = 0.340 |
1 variants are reported as described in the respective articles and indicated pooling heterozygous and homozygous. AF: atrial fibrillation; * minor allele frequency (MAF) (https://gnomad.broadinstitute.org/ accessed date 25 November 2021).