Genotyping of Clinical Parameters in Age-Related Macular Degeneration

Figures & data

Table 1 Sociodemogaphic details of AMD patients recruited in the study

	Gender		Smoking Status		Co-Morbidities
	Males	Females	Yes	No	Yes	No
AMD (n=53)	29	24	14	39	39	14

Table 2 Association of genotypes of studied SNPs with clinical findings of AMD patients. LIPC (Lipase C) was found to be significantly associated with IRF (intra retinal fluid)

Parameters	ADAMTS9 (N=43)				APOE (N=49)				HTRA1 (N=47)				LIPC (N=53)
OCT Findings	TT (N=25)	CC (N=5)	CT (N=13)	p	AA (N=45)	AG (N=4)	GG (N=0)	P	GG (N=7)	AA (N=22)	AG (N=18)	P	GG (N=27)	CC (N=4)	CG (N=22)	P
SRF	7	2	4	0.86	10	2	0	0.21	2	6	7	0.72	4	1	8	0.21
IRF	13	1	5	0.37	21	0	0	0.07	5	6	10	0.06	12	4	7	0.04
RPED	12	0	3	0.06	17	0	0	0.13	1	8	8	0.37	7	2	7	0.60
RPE Irr	22	3	12	0.18	36	3	0	0.81	6	16	17	0.42	19	4	20	0.12
Fibrosis	8	1	3	0.77	12	0	0	0.23	2	6	3	0.68	9	2	2	0.07

Table 3 Association of genotype of studied genetic loci with gender, smoking status, co-morbidities and diagnosis based on AREDS criteria: There was a significant association between genotype and some studied variables. ADAMSTS9 genotype aas associated with AREDS criteria. IER-3 genotype was associated with the co-morbidities, and SLC16A8 genotype was associated with gender in AMD patients

Parameters		ADAMTS9				APOE				B3GALTl				IER-3
		TT	CC	CT	P	AA	AG	GG	P	TT	CT	CC	P	AA	AG	GG	P
Gender	Male	15	3	7	0.93	25	3		0.45	12	3	10	0.08	4	18		0.53
	Female	10	2	6		20	1			16	0	5		5	14
Smoking	Smoker	7	3	3	0.29	11	3		0.03	6	1	5	0.66	2	9		0.72
	Non-smoker	18	2	10		34	1			0	0	0		7	23
Co-morbidity	Absent	6	0	5	0.24	11	1		0.98	6	0	4		6	8		0.02
	Present	19	5	8		34	3			22	3	11		3	24
AREDS	Early	0	1	0	0.08	0	1		0.002	1	0	0	0.59	0	0
	Intermediate	4	1	3		8	0			6	1	3		2	8
	Advanced	21	3	10		37	3			21	2	12		7	24
Parameters		SLC16A8				HTRA1				LIPC				TIMP-3
Gender	Male	CC	TT	CT	P	GG	AA	AG	P	GG	CC	CG	P	CC	GG	GC	P
	Female	19	1	5	0.02	4	12	11	0.91	18	3	8	0.07	25	0	5	0.52
Smoking	Smoker	7	1	11		3	10	7		9	1	14		16	0	5
	Non-smoker	5	1	4	0.584	3	3	6	0.19	6	3	5	0.07	8	0	4	0.17
Co-morbidty	Absent	21	1	12		4	19	12		21	1	17		33	0	6
	Present	7	0	3	0.60	1	4	5	0.612	7	2	5	0.52	10	0	5	0.11
AREDS	Early	19	2	13		6	18	12		20	2	17		31	0	5
	Intermediate	0	0	0	0.47	1	0	0	0.08	1	0	0	0.47	1	0	0	0.697
	Advanced	4	1	3		1	5	1		7	1	2		8	0	3
		22	1	13		5	17	17		19	3	20		32	0	7

Abbreviations: AREDS, age-related eye disease study; ADAMTS9, a disintegrin and metalloproteinase with thrombospondin motifs 9; APOE, apolipoprotein E, B3GALTL, Beta-1,3-glucosyltransferase; IER-3, immediate early response 3, SLC16A8, solute carrier family 16 member 8; HTRA1, high-temperature requirement A serine peptidase 1; LIPC, lipase C, hepatic type; TIMP-3, tissue inhibitor of metalloproteinases 3.

Table 4 Association of clinical variants obtained from OCT images and their association with existing AREDS score designated with Pearson’s Chi-square values (p-value). RPED was found to be associated with AREDS score

Count		AREDS
		AREDS 3	AREDS 4	AREDS 5	p-value
SRF	Absent	8	6	16
	Present	1	3	9
	Total	9	9	25	0.369
IRF	Absent	6	5	13
	Present	3	4	12
	Total	9	9	25	0.749
RPED	Absent	8	8	12
	Present	1	1	13	0.021
	Total	9	9	25
RPE Irr	Absent	2	2	2
	Present	7	7	23
	Total	9	9	25	0.414
FIbrosis	Absent	8	5	18
	Present	1	4	7	0.289
	Total	9	9	25

Abbreviations: AMD, age-related macular degeneration; SRF, subretinal fluid; IRF, intraretinal fluid; RPED, retinal pigment epithelium detachment; RPE Irr, retinal pigment epithelium irregularity.

Figure 1 Area under ROC (AUROC) to predict AMD cases from the normal population based on the criteria of association between RPED and AREDS.