Table 2.
Analysis of the CYP1B1 sequence changes detected in the POAG patients
| Nucleotide change | AA change | Mutation type | Homozygous/heterozygous | % in POAGa | % in controls | Pathogenicity assessment |
|---|---|---|---|---|---|---|
| g.3947C>G | R48G | Missense | Heterozygous | 56 | 56 | Polymorphic |
| g.3987G>A | G61E | Missense | Heterozygous | 4 | 2 | Pathogenicb |
| g.4160G>T | A119S | Missense | Heterozygous | 38 | 38 | Polymorphic |
| g.8131C>G | L432V | Missense | Homozygous | 60 | 62 | Polymorphic |
| g.8184C>T | D449D | Silent | Homozygous | 58 | 62 | Silent |
| g.8195A>G | N453S | Missense | Homozygous | 22 | 22 | Polymorphic |
Notes:
a
Non-significant (p>0.05) as compared to controls (Fisher’s exact test).
b
This mutation is causative if inherited in homozygous form.
Abbreviations: CYP1B1, Cytochrome P450 Family 1 Subfamily B Member 1; POAG, primary open-angle glaucoma.