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. 2020 Dec 1;9(12):3900. doi: 10.3390/jcm9123900

Table A1.

Summary of SNPs selected for this study and their previously published associations with clinical parameters.

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.