Molecular Vision: Štabuc-Šilih, Mol Vis 2009; 15:2848-2860. Table 5

Table 5. Genotype representation and associations under dominant and recessive model between keratoconus patients and controls.

COL4A3 polymorphism	Genotype	Cases (n=104)	Controls (n=157)	Dominant model			Recessive model
COL4A3 polymorphism	Genotype	Cases (n=104)	Controls (n=157)	p-value	OR	RR	p-value	OR	RR
G43R	127GG	95	144	NC	NC	NC	1.0000
	127CC	0	0	1.0000			NC	NC	NC
	127GC	9	13
P141L	422CC	69	116	0.0177	8.524	5.399	0.2115
	422TT	1	12	0.2115			0.0177	0.117	0.1852
	422CT	34	29
E162G	485AA	71	111	0.2489			0.6821
	485GG	1	6	0.6821			0.2489
	485AG	32	40
D326Y	976GG	96	66	<0.0001	30.645	17.013	<0.0001	16.545	7.333
	976TT	1	36	<0.0001	0.060	0.136	<0.0001	0.033	0.058
	976GT	7	55
H451R	1352AA	89	135	NC	NC	NC	1.0000
	1352GG	0	0	1.0000			NC	NC	NC
	1352AG	15	22
G484G	1452GG	95	141	NC	NC	NC	0.8306
	1452AA	0	0	0.8306			NC	NC	NC
	1452GA	9	16
P574L	1721CC	28	41	0.5039			0.3853
	1721TT	14	32	0.3853			0.5039
	1721CT	62	84
G895G	2685AA	44	76	0.0399	0.336	0.589	0.3752
	2685CC	11	6	0.3752			0.0399	2.977	1.698
	2685AC	49	75
COL4A4 polymorphism	Genotype	Cases (n=104)	Controls (n=157)	Dominant model			Recessive model
COL4A4 polymorphism	Genotype	Cases (n=104)	Controls (n=157)	p-value	OR	RR	p-value	OR	RR
P482S	1444CC	31	36	0.0147	0.360	0.597	0.2474
	1444TT	18	11	0.2474			0.0147	2.788	1.674
	1444CT	55	110
G545A	1634GG	97	144	NC	NC	NC	0.8130
	1634CC	0	0	0.8130			NC	NC	NC
	1634GC	7	13
G789G	2367AA	97	145	0.3985			1.0000
	2367TT	1	0	1.0000			0.3985
	2367AT	6	12
M1327V	3979AA	5	62	0.0897			<0.0001	0.077	0.146
	3979GG	35	37	<0.0001	12.922	6.838	0.0897
	3979AG	64	58
V1516V	4548AA	32	53	0.0362	1.993	1.561	0.6861
	4548GG	17	44	0.6861			4	0.502	0.641
	4548AG	55	60
F1644F	4932CC	43	46	0.0038	2.890	2.053	0.0469	1.701	1.362
	4932TT	11	40	0.0469	0.588	0.734	0.0038	0.346	0.487
	4932CT	50	71

Significant differences are shown in bold. Cases: keratoconus patients, Controls: healthy blood donors, n: number of individuals, NC- not calculated, Genotype: Genotypes found representing each polymorphism in cases and controls. Fisher’s exact test was used for statistics. Differences between genotypes are significant when two-sided p-value (p-value) is less than 0.05. OR: Odds ratio, RR: relative risk. OR and RR are shown only for genotypes with significant differences (p-value less than 0.05). Dominant model column shows Fisher’s test results calculated from the sum of the number of individuals with homozygous and heterozygous genotypes compared to the number of individuals with another homozygous genotype for each polymorphism. Recessive model column shows Fisher’s test results obtained by comparing the number of individuals with homozygous genotype against the sum of individuals with another homozygous or heterozygous genotype for each polymorphism.