Variants identified by direct sequencing of the ENG, ALK1, TGBR2 and BMPR2 genes
| Gene | Location | Nucleotide change | Amino acid change | rs number | MAF | SSc–PAH (n=10) | SSc without PAH (n=9) | Controls (n=7) |
|---|---|---|---|---|---|---|---|---|
| ENG | Exon 1 | c.14 G>A | p.T5M | rs35400405 | NA | 3 | 0 | 0 |
| Intron 1 (−215) | T>C | rs60683420 | NA | 0 | 2 | 0 | ||
| Exon 2 | c.227 C>T | p.L69L | rs16930129 | 0.165 | 2 | 4 | 2 | |
| Intron 2 (+25) | A>C | rs7847860 | NA | 0 | 0 | 2 | ||
| Intron 5* (+59) | del G | NA | NA | 1 | 1 | 1 | ||
| Intron 7* (+23) | ins TCCCCC | NA | NA | 1 | 9 | 4 | ||
| Exon 8 | c.1029 G>A | p.H343H | rs3739817 | 0.066 | 0 | 5 | 4 | |
| Intron 13 (−72) | A>G | rs10760503 | 0.407 | 3 | 6 | 2 | ||
| ALK1 | Promoter (−38) | C>T | rs2277382 | 0.075 | 3 | 0 | 0 | |
| Intron 3 (+11) | T>C | rs2071218 | NA | 7 | 4 | 5 | ||
| Intron 3 (−36)* | T>A | NA | NA | 6 | 5 | 4 | ||
| Intron 5 (+44)* | A>G | NA | NA | 0 | 0 | 4 | ||
| TGFBR2 | Intron 2 (+7) | A>G | p.N389N | rs1155705 | 0.336 | 4 | 5 | 3 |
| Intron 3 (−4) | A>T | rs11466512 | NA | 8 | 4 | 4 | ||
| Exon 4 | c.1167 C>T | rs2228048 | 0.027 | 0 | 0 | 1 | ||
| BMPR2 | Intron 6 (−22) | del T | p.R937R | rs11464745 | NA | 1 | 2 | 0 |
| Exon 12 | c.2811 G>A | rs1061157 | 0.128 | 3 | 2 | 3 |
*Novel variants.
ALK1, activin A receptor type II-like 1; BMPR2, BMP receptor type II; ENG, endoglin; MAF, minor allele frequency; NA, not available; PAH, pulmonary arterial hypertension; SSc, systemic sclerosis; TGFBR2, TGFbeta receptor type II.