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Table 2 Distribution of single nucleotide polymorphisms in NOS2 gene promoter region

From: NOS2polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis: contribution to the transcriptional activity

Subjects -1,026 bp -277 bp Haplotype
  G/G G/T T/T A/A A/G G/G GA TA GG TG
SSc with PAH (n = 20) 20 (100) 0 0 20 (100) 0 0 40 0 0 0
SSc without PAH (n = 58) 43 (74) 11 (19) 4 (7) 43 (74) 10 (17) 5 (9) 96 0 1 19
Healthy controls (n = 95) 69 (73) 23 (24) 3 (3) 73 (77) 19 (20) 3 (3) 161 0 4 25
  1. Values indicate number (%) of genotype or number of haplotype, which consists of two SNPs at -1,026 and -277. There were significant differences between patients with SSc who did and those who did not have PAH in the distribution of two SNPs at -277 and -1,026 (both P = 0.04, by Fisher's exact test). Comparing the distribution of two SNPs between patients with SSc complicated by PAH and healthy control individuals, there was a significant difference at -1,026 (P = 0.02), but there was no difference at -277 (P = 0.053). With respect to haplotype, the frequency of GA was significantly higher in SSc with PAH than in SSc without PAH and in healthy control individuals (P = 0.001 and P = 0.02, respectively). PAH, pulmonary arterial hypertension; SNP, single nucleotide polymorphism; SSc, systemic sclerosis.