Exon/Variant | Genotype | Level of adverse effects | P-value | |||
---|---|---|---|---|---|---|
0 | 1 | 2 | 3 | |||
a) | ||||||
Pleural thickening | ||||||
Exon 20 | GG | 136 | 82 | 23 | 1 | 0.001 |
IVS20+28delG | GA | 4 | 2 | 0 | 1 | |
Exon 31, rs1800058 | CC | 135 | 82 | 23 | 1 | > 0.001 |
4258 C>T | CT | 5 | 1 | 0 | 1 | |
Leu > Phe | ||||||
Exon 41, rs3092910 | ||||||
5793 T>C | TT | 136 | 82 | 23 | 1 | 0.001 |
Ala > Ala | TC | 4 | 2 | 0 | 1 | |
Lung fibrosis | ||||||
Exon 31, rs1800058 | CC | 66 | 156 | 18 | 1 | > 0.001 |
4258 C>T | CT | 3 | 3 | 0 | 1 | |
Leu > Phe | ||||||
Development of telangiectasias | ||||||
Exon 39, rs1801516 | GG | 35 | 33 | 41 | 70 | 0.042 |
5557 G>A | GA | 11 | 14 | 10 | 20 | |
Asp > Asn | AA | 4 | 1 | 0 | 0 | |
Atrophy | ||||||
Exon 31, rs1800058 | ||||||
4258 C>T | CC | 35 | 57 | 74 | 65 | 0.02 |
Leu > Phe | CT | 4 | 1 | 0 | 2 | |
b) | ||||||
Pleural thickening | ||||||
Exon 20 | GG | 69 | 61 | 19 | 0 | > 0.001 |
IVS20+28delG | GA | 2 | 2 | 0 | 1 | |
Exon 41, rs3092910 | TT | 69 | 61 | 19 | 0 | > 0.001 |
5793 T>C | TC | 2 | 2 | 0 | 1 | |
Ala > Ala | ||||||
Lung fibrosis | ||||||
Exon 32, rs1800889 | CC | 11 | 111 | 13 | 0 | 0.009 |
4578 C>T | CT | 4 | 11 | 2 | 1 | |
Pro > Pro | ||||||
Development of telangiectasias | ||||||
Exon 39, rs1801516 | GG | 14 | 21 | 28 | 47 | 0.027 |
5557 G>A | GA | 4 | 9 | 9 | 15 | |
Asp > Asn | AA | 3 | 1 | 0 | 0 | |
c) | ||||||
Costal fractures | ||||||
Exon 9, rs3218674 | CC | 75 | 12 | 1 | 0 | 0.043 |
735 C>T | CT | 6 | 0 | 1 | 0 | |
Val > Val | ||||||
Pleural thickening | ||||||
Exon 31, rs1800058 | CC | 64 | 20 | 4 | 0 | 0.001 |
4258 C>T | CT | 5 | 0 | 0 | 1 | |
Leu > Phe | ||||||
Lung fibrosis | ||||||
Exon 31, rs1800058 | CC | 51 | 35 | 2 | 0 | 0.002 |
4258 C>T | CT | 3 | 2 | 0 | 1 | |
Leu > Phe | ||||||
Subcutaneous fibrosis | ||||||
Exon 32, rs1800889 | CC | 32 | 25 | 16 | 5 | 0.022 |
4578 C>T | CT | 6 | 1 | 0 | 3 | |
Pro > Pro |