Molecular Vision: Kubista, Mol Vis 2011; 17:2080-2092. Table 3

Table 3. Common copy number variation observed and the association with AMD.

Deletion	Minor allele frequency in all 813 subjects (%)	Final deletion count	Number subjects (%)	Control n (%)	AMD cases n (%)	Early AMD n (%)	Geographic atrophy n (%)	Exudative AMD n (%)	Advanced AMD‡ n (%)	OR (95% CI) §	Log-additive p-value	Log-additive p-value age, gender adjusted
**CFHR3 and CFHR1**	15	2	25 (3.1)	19 (5.4)	6 (1.4)	5 (2.4)	0 (0)	1 (0.7)	1 (0.4)	0.47 (0.36–0.62)	1.35E-07	1.24E-07
		1	190 (23.9)	108 (30.7)	82 (18.6)	37 (17.9)	11 (13.1)	34 (22.5)	45 (19.1)
		0	579 (72.9)	225 (63.9)	354 (80.1)	165 (79.7)	73 (86.9)	116 (76.8)	189 (80.4)
		Total	794* (100)	352 (100)	442 (100)	207 (100)	84 (100)	151 (100)	235 (100)
**CFHR1 and CFHR4**	1.3	2	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0.73 (0.26–2.04)	0.5498	0.8081
		1	15 (2.5)	7 (3)	8 (2.2)	3 (1.8)	0 (0)	5 (4.1)	5 (2.6)
		0	582 (97.5)	227 (97)	355 (97.8)	165 (98.2)	73 (100)	117 (95.9)	190 (97.4)
		Total	597† (100)	234 (100)	363 (100)	168 (100)	73 (100)	122 (100)	195 (100)

* The total for combined deletions of CFHR3 and CFHR1 is 794, because 19 subjects had other copy number variations and are not included in this analysis. †The total for combined deletions of CFHR1 and CFHR4 is 597, because 216 subjects had other copy number variations. ‡Advanced AMD is all subjects with geographic atrophy and/or exudative AMD. § This is the odds ratio (OR) for being a case rather than a control by adding one more deletion, assuming additivity on the log scale. Thus, the OR for two deletions compared to no deletion is the square of the OR for one deletion.