Table A1.
Gene/SNP | Position | Genetic Consequence | Clinical Rationale | Related References |
---|---|---|---|---|
NOS3 | ||||
rs1799983 | Exon 8 | Missense variant | Minor allele associated with worse outcome after SAH and risk of ischemic stroke. | [26,49,50,51,52] |
rs2070744 | Intron 1 | Intron variant | Minor allele associated with increased risk of DCI and cardiac instability in patients with SAH; proposed as a susceptibility locus for cerebral infarction. | [53,54,55] |
rs891512 | Intron 23 | Intron variant | Minor allele associated with ankle-brachial index, with higher systolic and diastolic blood pressure, and risk of coronary artery disease. | [56,57,58,59,60] |
DDAH1 | ||||
rs1241321 | Intron 1 | Intron variant | Minor allele associated with higher risk of all-cause mortality and the combined endpoint of cardiovascular death, nonfatal myocardial infarction and stroke. | [61] |
rs233112 | Exon 6 | 3′ UTR variant | Minor allele associated with arterial stiffness and pulse wave reflection. | [62] |
rs480414 | Intron 1 | Intron variant | Minor allele associated with a lower incidence of pulmonary hypertension in patients with bronchopulmonary dysplasia. | [63] |
DDAH2 | ||||
rs805304 | 2 kb upstream variant | Minor allele associated with higher prevalence of hypertension, higher ADMA concentration in diabetic renal impairment, and decreased risk of myocardial infarction. | [64,65,66] | |
rs2272592 | 2 kb upstream variant | Minor allele associated with type 2 diabetes. | [67] | |
ARG1 | ||||
rs2246012 | Intron 2 | Intron variant | No published information available. | |
rs2781667 | Intron 1 | Intron variant | Major allele associated with higher severity of erectile dysfunction. | [68] |
ARG2 | ||||
rs3742879 | Intron 7 | Intron variant | Major allele associated with lower exhaled nitric oxide in children, and more severe airway obstruction in patients with asthma. | [69,70] |
rs3759757 | 8 kb upstream variant | No published information available. | ||
AGXT2 | ||||
rs37369 | Exon 4 | Missense variant | Minor allele associated with higher methylarginine levels, higher diastolic blood pressure, and higher risk of coronary artery disease. | [71,72,73] |
rs16899974 | Exon 14 | Missense variant | Minor allele associated with higher levels of SDMA, with atrial fibrillation and ischemic stroke, and higher risk of coronary artery disease. | [71,73,74] |
PRMT1 | ||||
rs10415880 | Intron 8 | Intron variant | Minor allele associated with arteriovenous fistula malfunction in male hemodialysis patients. | [75] |
rs975484 | Upstream transcript variant | No published information available. |
Abbreviations: NOS3, endothelial nitric oxide synthase; DDAH1, dimethylarginine dimethylaminohydrolase-1; DDAH2, dimethylarginine dimethylaminohydrolase-2; ARG1, arginase-1; ARG2, arginase-2; AGXT2, alanine glyoxylate aminotransferase-2; PRMT1, protein-arginine N-methyltransferase-1.