Table 3.
Candidate gene association studies conducted in PAH
| Ge ne |
PAH classification | Patient sample (n) |
Control sample (n) |
Association (Patient/control freq.) |
Significance (p value) |
Reference |
|---|---|---|---|---|---|---|
| ACE | Not specified | 60 | 158 | DD genotype (0.45/0.28) |
(0.01) | Abraham et al(59) |
| Not specified | 51 | 200 | No association | N/A | Hoeper et al (63) | |
| Hypoxic | 48 | 30 | I allele (0.67/0.38) | 0.003 | Aldashev et al(60) | |
| 5-HTT | PAH + app.suppressants |
89 | 84 | II genotype (0.65/0.27) |
<0.001 | Eddahibi et al (62) |
| IPAH/CTEPH | 74/35 | Unknown | No association | N/A | Koehler et al (64) | |
| HPAH/IPAH/APAH | 133/259/136 | 253 | No association | N/A | Machado et al (35) | |
| HPAH/IPAH | 166/83 | 125 | II genotype with early onset in FPAH |
<0.02 | Willers et al (67) | |
| Endoglin | PAH+systemic sclerosis |
23 | 140 | 6bINS (0.11/0.24) | <0.01 | Wipff et al (68) |
| PGIS | Chronic thromboembolic PH |
90 | 144 | No association | N/A | Amano et al (61) |
| Kv1.5 | IPAH |
NO Respond ers 42 |
NO non- responder s 37 |
SNP4 a allele; SNP17 a allele (0.07/0.23; 0.016/0.06) |
0.01/0.05 | Remillard et al (66) |
ACE = angiotensin converting enzyme; 5-HTT = 5-hydroxy-tryptamine (serotonin) transporter; PGIS = prostacyclin synthase gene; Kv1.5 = potassium channel subunit 1.5; NO = nitric oxide; I = insertion; D = deletion.