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

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

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

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.

ISSN: 1478-6362