Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin

Figures & data

Table 1 Demographic and clinical characteristics of POAG cases and controls included in this study

Variables	POAG (n=50) No (%)	Controls (n=50) No (%)	p-valuea
Demographic characteristics
Age in years, mean (±SD)	59.8 (11.5)	60.2 (8.2)	0.817b
Male/female	31/19	29/21	0.680
Systemic diseases
Diabetes mellitus	21 (42.0)	24 (48)	0.548
Coronary artery disease	2 (4.0)	1 (2.0)	0.999c
Hypertension	17 (34)	14 (28.0)	0.516
Hypercholesterolemia	4 (8.0)	2 (4.0)	0.677c
Health awareness/behavior
Family history of glaucoma	8 (16.0)	1 (2.0)	0.030c
Smoking	3 (6.0)	4 (8.0)	0.999c
Glaucoma indices
Intraocular pressure in mmHg, mean (SD)	22.0 (8.2)	NA	–
Cup/disk ratio	0.84 (0.6)	NA	–
Number of anti-glaucoma medications	1.7 (1.1)	0 (0)	–
LogMAR visual acuity, mean (±SD)	0.60 (0.77)	NA	–

Notes:

a Pearson Chi-square test.

b Independent samples t-test.

c Fisher’s exact test.

Abbreviations: LogMAR, Logarithm of the minimum angle of resolution; NA, not available; POAG, primary open-angle glaucoma.

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.