Table 2.
Description and calculated minor allele frequencies (MAF) for 36 SNPs in DDAH1 and DDAH2.
| Gene | SNP-rs | Nucleotide change | Functional consequence | Calculated MAF: BPD alone (n=73) | Calculated MAF: BPD+PH (n=25) | p-value |
|---|---|---|---|---|---|---|
| DDAH1 | 2935 | G>A | intron variant | 0.130 | 0.100 | 0.29 |
| DDAH1 | 233080 | G>A | intron variant | 0.322 | 0.280 | 0.29 |
| DDAH1 | 233112 | G>C | utr variant 3 prime | 0.329 | 0.420 | 0.12 |
| DDAH1 | 233115 | C>A | utr variant 3 prime | 0.315 | 0.420 | 0.09 |
| DDAH1 | 233130 | G>C | intron variant | 0.315 | 0.420 | 0.09 |
| DDAH1 | 480414 | G>A | intron variant | 0.342 | 0.200 | 0.03 |
| DDAH1 | 539714 | T>C | intron variant | 0.171 | 0.220 | 0.22 |
| DDAH1 | 553257 | T>G | intron variant | 0.192 | 0.180 | 0.43 |
| DDAH1 | 669173 | T>C | intron variant | 0.411 | 0.400 | 0.45 |
| DDAH1 | 877041 | G>A | intron variant | 0.356 | 0.300 | 0.24 |
| DDAH1 | 954353 | T>G | upstream variant 2KB | 0.390 | 0.340 | 0.26 |
| DDAH1 | 974874 | A>G | intron variant | 0.240 | 0.320 | 0.13 |
| DDAH1 | 986639 | G>C | intron variant | 0.164 | 0.220 | 0.19 |
| DDAH1 | 1241321 | T>G | intron variant | 0.301 | 0.340 | 0.31 |
| DDAH1 | 1403951 | G>A | intron variant | 0.459 | 0.480 | 0.40 |
| DDAH1 | 1403955 | A>G | intron variant | 0.390 | 0.500 | 0.09 |
| DDAH1 | 1498373 | C>A | intron variant | 0.260 | 0.360 | 0.09 |
| DDAH1 | 1498374 | G>T | intron variant | 0.158 | 0.200 | 0.24 |
| DDAH1 | 2177461 | G>C | intron variant | 0.336 | 0.440 | 0.09 |
| DDAH1 | 2474123 | G>A | intron variant; upstream variant 2KB | 0.370 | 0.440 | 0.19 |
| DDAH1 | 3738111 | T>G | intron variant | 0.130 | 0.100 | 0.29 |
| DDAH1 | 3753793 | G>C | upstream variant 2KB | 0.322 | 0.240 | 0.13 |
| DDAH1 | 7521189 | G>A | intron variant | 0.479 | 0.440 | 0.31 |
| DDAH1 | 10782551 | G>A | intron variant | 0.075 | 0.100 | 0.29 |
| DDAH1 | 11161614 | T>G | intron variant | 0.178 | 0.200 | 0.36 |
| DDAH1 | 11161618 | C>T | intron variant | 0.322 | 0.400 | 0.16 |
| DDAH1 | 11161637 | A>G | intron variant | 0.308 | 0.260 | 0.26 |
| DDAH1 | 12132677 | A>C | intron variant | 0.151 | 0.200 | 0.07 |
| DDAH1 | 12568675 | T>C | intron variant | 0.082 | 0.080 | 0.48 |
| DDAH1 | 13373844 | A>C | intron variant | 0.233 | 0.220 | 0.43 |
| DDAH1 | 17384213 | G>A | intron variant | 0.103 | 0.160 | 0.14 |
| DDAH1 | 17590006 | A>G | intron variant | 0.158 | 0.220 | 0.16 |
| DDAH2 | 707916 | T>G | intron variant; upstream variant 2KB; utr variant 5 prime | 0.425 | 0.440 | 0.43 |
| DDAH2 | 805304 | C>T | downstream variant 500B; upstream variant 2KB | 0.425 | 0.440 | 0.43 |
| DDAH2 | 805305 | G>C | intron variant; upstream variant 2KB; utr variant 5 prime | 0.370 | 0.360 | 0.45 |
| DDAH2 | 2272592 | G>T | downstream variant 500B; upstream variant 2KB | 0.158 | 0.120 | 0.26 |
SNP, single nucleotide polymorphism; MAF, minor allele frequency; BPD, bronchopulmonary dysplasia; PH, pulmonary hypertension; rs, NCBI dbSNP number; DDAH, dimethylarginine dimethylaminohydrolase.