Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

Table 1 Genome-wide search for early AMD association

Rs identifier	chr:pos [hg19]	EA	OA	EAF	logOR	SE	OR	P	N cases	N controls	Known advanced AMD locus (Fritsche et al.)	Locus name
Novel early AMD loci:
rs4844620	1:207980901	g	a	0.79	0.095	0.017	1.10	4.7E-08	14,031	91,179	no	CD46
rs547154	6:31910938	g	t	0.91	0.218	0.025	1.24	1.3E-18	14,027	91,137	yes	C2
rs943080	6:43826627	t	c	0.51	0.080	0.015	1.08	4.7E-08	13,220	85,747	yes	VEGFA
rs13278062	8:23082971	t	g	0.52	0.080	0.014	1.08	2.0E-08	13,644	85,908	yes	TNFRSF10A
rs5817082	16:56997349	c	ca	0.26	0.108	0.017	1.11	1.0E-10	12,599	81,863	yes	CETP
rs11569415	19:6716279	a	g	0.21	0.116	0.018	1.12	1.7E-10	13,115	83,117	yes	C3
Known early AMD loci:
rs4658046	1:196670757	c	t	0.39	0.321	0.014	1.38	2.9E-114	14,034	91,201	yes	CFH
rs3750847	10:124215421	t	c	0.22	0.384	0.017	1.47	1.3E-116	14,025	91,171	yes	ARMS2/HTRA1

EA effect allele, OA other allele, EAF effect allele frequency, logOR log odds ratio, SE standard error of logOR; OR odds ratio, P double GC corrected early association P value from the meta-analysis
The table shows the eight genome-wide significant (P < 5.0 × 10^− 8) lead variants from the early AMD meta-analysis. The second last column indicates whether the locus was identified by Fritsche et al. for advanced AMD [9]

ISSN: 1755-8794