Molecular Vision: Kondo, Mol Vis 2009; 15:1819-1826. Table 2

Table 2. Allele and genotype distributions of rs4880 (V16A) and rs5746136 and the results of association tests

SNP	Status	Genotype count (frequency)			Allele 2 frequency	OR_allele (95% CI)	p value
SNP	Status	11	12	22	Allele 2 frequency	OR_allele (95% CI)	Allele (1 df)	Genotype (2 df)	Dominant (1 df)	Recessive (1 df)
rs4880	Control	137 (0.725)	44 (0.233)	8 (0.042)	0.159	-	-	-	-	-
	AMD	90 (0.776)	24 (0.207)	2 (0.017)	0.121	0.73 (0.45–1.18)	0.19	0.44	0.35	0.33
	PCV	105 (0.750)	33 (0.236)	2 (0.014)	0.132	0.81 (0.52–1.26)	0.34	0.38	0.7	0.2
rs5746136	Control	77 (0.407)	85 (0.450)	27 (0.143)	0.368	-	-	-	-	-
	Neovascular AMD	49 (0.422)	53 (0.457)	14 (0.121)	0.349	0.92 (0.66–0.30)	0.64	0.86	0.8	0.58
	PCV	57 (0.407)	61 (0.436)	22 (0.157)	0.375	1.03 (0.75–1.42)	0.85	0.93	1	0.72

Neither of the two SNPs showed a significant association with either neovascular AMD or PCV in any of the genetic models. Alleles 1 and 2 represent major and minor alleles, respectively, and 11, 12, and 22 represent the homozygote of allele 1, heterozygote, and homozygote of allele 2, respectively. The T and C alleles of rs4880 are labeled as alleles 1 and 2, respectively. The G and A alleles of rs5746136 are labeled as alleles 1 and 2, respectively. The genotypic, dominant, and recessive tests for rs4880 were performed using the Fisher’s exact test, and the others were performed by the χ²-test. The dominant model compared a combination of heterozygotes and rare homozygotes to the common homozygotes. The recessive model compared the rare homozygotes to a combination of common homozygotes and heterozygotes. OR_allele indicates per-allele odds ratio in the allelic test. Abbreviations: single nucleotide polymorphism (SNP); age-related macular degeneration (AMD); polypoidal choroidal vasculopathy (PCV); odds ratio (OR); confidence interval (CI); degree of freedom (df).