Associations of ARMS2 and CFH Gene Polymorphisms with Neovascular Age-Related Macular Degeneration

Figures & data

Table 1 Baseline Characteristics of Participants

	nAMD	Control	P
	(n=104)	(n=100)
Age, year
Range (median)	45–83 (67)	49–99 (68)	0.16
Mean ± SD	66.3 ± 8.8	67.9 ± 7.7
Sex
Male	46 (44.2%)	45 (45.0%)	0.91
Female	58 (55.8%)	55 (55.0%)
BMI (kg/m^2)
Range (median)	15.2–37.1 (23.3)	15.2–36.8 (21.4)	0.002
Mean ± SD	23.7 ± 3.9	22.0 ± 4.1
BMI distribution, n
<18.5 kg/m^2	41 (39.4%)	40 (40.0%)	<0.001
18.5–22.9 kg/m^2	6 (5.8%)	34 (34.0%)
23–24.9 kg/m^2	23 (22.1%)	16 (16.0%)
>25 kg/m^2	34 (32.7%)	10 (10.0%)
Sunlight exposure
Indoor workplace	73 (70.2%)	72 (72.0%)	0.78
Outdoor workplace	31 (29.8%)	28 (28.0%)
Smoking
Never	73 (70.2%)	77 (77.0%)	0.27
Ever	31 (29.8%)	23 (23.0%)
Blood pressure
Normal blood pressure	56 (53.8%)	82 (82.0%)	<0.001
High blood pressure	48 (46.2%)	18 (18.0%)

Abbreviations: nAMD, neovascular age-related macular degeneration; SD, standard deviation; BMI, body mass index; kg/m², kilogram/meter².

Table 2 Case–Control Frequencies of Alleles and Genotypes of SNP on ARMS2 A69S, ARMS2 del443ins54 and CFH Y402H

SNP		Allele Distribution (%)		Allele Association (P)	Crude OR (95% CI)		Genotype Distribution (%)		Genotype Association (P)	Crude OR (95% CI)	P (HWE)
		Case	Control				Case	Control
ARMS2 A69S	G	61 (29.3%)	113 (56.5%)	<0.001	1.00 (reference)	GG	16 (15.4%)	34 (34.0%)	<0.001	1.00 (reference)	0.398
	T	147 (70.7%)	87 (43.5%)		3.13 (2.08–4.71)	GT	29 (27.9%)	45 (45.0%)		1.37 (0.64–2.92)
						TT	59 (56.7%)	21 (21.0%)		5.97 (2.75–12.96)
ARMS2 del443ins54	wt	59 (28.4%)	113 (56.5%)	<0.001	1.00 (reference)	wt	12 (11.5%)	32 (32.0%)	<0.001	1.00 (reference)	0.975
	indel	149 (71.6%)	87 (43.5%)		3.28 (2.17–4.95)	wt/indel	35 (33.7%)	49 (49.0%)		1.90 (0.86–4.21)
						indel	57 (54.8%)	19 (19.0%)		7.99 (3.45–18.58)
CFH Y402H	T	178 (85.6%)	185 (92.5%)	0.028	1.00 (reference)	TT	75 (72.1%)	86 (86.0%)	0.043	1.00 (reference)	0.528
	C	30 (14.4%)	15 (7.5%)		2.08 (1.08–3.99)	TC	28 (26.9%)	13 (13.0%)		2.47 (1.19–5.11)
						CC	1 (1.0%)	1 (1.0%)		1.15 (0.07–18.65)

Abbreviations: HWE, Hardy Weinberg equilibrium in control group; wt (wild-type), non-risk allele; indel, insertion/deletion.

Table 3 Distribution of Unadjusted and Adjusted Odds Ratio for Risk Genotypes in ARMS2 A69S, ARMS2 Del443ins54 and CFH Y402H

Gene (SNP)	Genotype	OR (95% CI)	P	OR (95% CI)^a	P	OR (95% CI)^b	P
ARMS2 A69S	GG	1.00 (reference)	–	1.00 (reference)	–	1.00 (reference)	–
	GT	1.37 (0.64–2.92)	0.415	1.02 (0.46–2.29)	0.953	0.76 (0.30–1.94)	0.569
	TT	5.97 (2.75–12.9)	<0.001	5.89 (2.62–13.3)	<0.001	6.82 (2.52–18.5)	<0.001
ARMS2 del443ins54	wt	1.00 (reference)	–	1.00 (reference)	–	1.00 (reference)	–
	wt/indel	1.90 (0.86–4.21)	0.111	1.48 (0.65–3.38)	0.355	0.99 (0.38–2.61)	0.994
	indel	7.99 (3.45–18.6)	<0.001	7.39 (3.10–17.6)	<0.001	7.20 (2.56–20.2)	<0.001
CFH Y402H	TT	1.00 (reference)	–	1.00 (reference)	–	1.00 (reference)	–
	TC	2.47 (1.19–5.11)	0.015	2.73 (1.29–5.81)	0.009	3.84 (1.42–10.4)	0.008
	CC	1.15 (0.07–18.7)	0.923	0.61 (0.03–12.4)	0.751	0.94 (0.004–186)	0.982

Notes: ^aAdjusted for age and gender; ^badditionally adjusted for smoking, body mass index, and blood pressure.

Abbreviations: wt (wild-type), non-risk allele; indel, insertion/deletion.

Table 4 Interaction Analysis of ARMS2 A69S and Hypertension

Category	OR (95% CI)	P-value	OR (95% CI)^a	P-value
No hypertension & no risk allele	1.00		1.00
Hypertension only	3.90 (2.06–7.40)	<0.001	4.51 (2.31–8.77)	<0.001
ARMS2 A69S only	2.83 (1.44–5.56)	0.002	2.81 (1.43–5.56)	0.003
Hypertension and ARMS2	9.53 (3.61–25.1)	<0.001	10.8 (4.00–28.7)	<0.001

Note: ^aAdjusted for age and gender.