Table 4:

PGIS Promoter VNTR Repeat Length and SNP Genotype and Allele Frequencies

	All PAH		Unaffected Carriers		Control Subjects
	Number	Frequency	Number	Frequency	Number	Frequency
VNTR genotypes
3/4	1	0.009	0	0.000	0	0.000
4/4	3	0.028	1	0.042	1	0.010
4/5	3	0.028	0	0.000	2	0.020
4/6	24	0.222	5	0.208	24	0.238
4/7	3	0.028	0	0.000	0	0.000
4/8	0	0.000	0	0.000	0	0.000
5/5	0	0.000	1	0.042	0	0.000
5/6	9	0.083	6	0.250	9	0.089
5/7	3	0.028	1	0.042	1	0.010
5/8	0	0.000	1	0.042	0	0.000
6/6	56	0.519	7	0.292	60	0.594
6/7	5	0.046	2	0.083	4	0.040
6/8	1	0.009	0	0.000	0	0.000
6/9	0	0.000	0	0.000	0	0.000
Total	108	1.000	24	1.000	101	1.000
VNTR alleles
3	1	0.005	0	0.000	0	0.000
4	37	0.171	7	0.146	28	0.139
5	15	0.069	10	0.208	33	0.163
6	151	0.699	27	0.563	136	0.673
7	11	0.051	3	0.063	5	0.025
8	1	0.005	1	0.021	0	0.000
9	0	0.000	0	0.000	0	0.000
Total	216	1.000	48	1.000	202	1.000
SNP1 K22 genotypes
T/T	28	0.259	6	0.250	38	0.376
T/G	53	0.491	10	0.417	44	0.436
G/G	27	0.250	8	0.333	19	0.188
Total	108	1.000	24	1.000	101	1.000
SNP1 K22 alleles
T	109	0.505	22	0.458	120	0.594
G	107	0.495	26	0.542	82	0.406
Total	216	1.000	48	1.000	202	1.000
SNP3 Y185 genotypes
C/C	45	0.417	12	0.500	37	0.366
C/T	50	0.463	9	0.375	37	0.366
T/T	13	0.120	3	0.125	27	0.267
Total	108	1.000	24	1.000	101	1.000
SNP3 Y185 alleles
C	140	0.648	33	0.688	111	0.550
T	76	0.352	15	0.313	91	0.450
Total	216	1.000	48	1.000	202	1.000
SNP4 C325A genotypes
C/C	93	0.861	15	0.625	85	0.842
C/A	14	0.130	8	0.333	15	0.149
A/A	1	0.009	1	0.042	1	0.010
Total	108	1.000	24	1.000	101	1.000
SNP4 C325A alleles
C	200	0.926	38	0.792	185	0.916
A	16	0.074	10	0.208	17	0.084
Total	216	1.000	48	1.000	202	1.000

Definition of abbreviations: PAH = pulmonary arterial hypertension; PGIS = prostacyclin synthase; SNP = single-nucleotide polymorphism; VNTR = variable number of tandem repeats.