Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India

BMC Ophthalmology

Table 1 Allele and genotype frequencies of COL8A2 and SLC4A11 variants

Gene	Variation			FECD		Normal		P-value
				(n = 80)	%	(n = 100)	%
*COL8A2*	c.112G>A (p. =)	Genotype	GG	67	83.8	93	93	0.104
			GA	9	11.3	6	6
			AA	4	5	1	1
		Allele	G	143	0.894	192	0.96	0.014
			A	17	0.106	8	0.04	0.014
	c.464G>A (Arg155Gln)	Genotype	GG	79	98.8	93	93	NS
			GA	0	0.0	5	5
			AA	1	1.25	2	2
		Allele	G	158	0.987	191	0.955	NS
			A	2	0.012	9	0.045
	c.1485G>A (p. =)	Genotype	GG	62	77.5	91	91	0.028
			GA	13	16.3	8	8
			AA	5	6.3	1	1
		Allele	G	137	0.856	190	0.95	0.002
			A	23	0.144	10	0.05	0.002
	c.1610G>A (Asp537Asn)*	Genotype	GG	78	97.5	95	95	NS
			GA	2	2.5	5	5
			AA	0	0.0	0	0.0
		Allele	G	158	0.987	195	0.975	NS
			A	2	0.012	5	0.025
	c.1643A>G (Asn548Ser)*	Genotype	AA	75	93.8	93	93	NS
			AG	5	6.3	7	7
			GG	0	0.0	0	0.0
		Allele	A	155	0.969	193	0.965	NS
			G	5	0.131	7	0.035
*SLC4A11*	c.405G>A (p. =)	Genotype	GG	78	97.5	94	94	NS
			GA	2	25	6	6
			AA	0	0.0	0	0.0
		Allele	G	158	0.98	194	0.97	NS
			A	2	0.012	6	0.015
	c.481A>C (p. =)	Genotype	AA	76	95	93	93	NS
			AC	4	5	7	7
			CC	0	0.0	0	0.0
		Allele	A	156	0.975	193	0.96	NS
			C	4	0.025	7	0.035
	c.639G>A (p. =)	Genotype	GG	79	98.75	95	95	NS
			GA	1	1.25	5	5
			AA	0	0.0	0	0.0
		Allele	G	159	0.99	195	0.97	NS
			A	1	0.006	5	0.025
	c.1659C>T (p. =) *	Genotype	CC	72	90	95	95	NS
			CT	8	10	5	5
			TT	0	0.0	0	0.0
		Allele	C	152	0.95	195	0.97	NS
			T	8	0.05	5	0.025
	c.1974C>T (p. =) *	Genotype	CC	76	95	91	91	NS
			CT	4	5	9	9
			TT	0	0.0	0	0
		Allele	C	156	0.97	191	0.955	NS
			T	4	0.02	9	0.045

The numbering is based on the complementary DNA sequence, with +1 corresponding to the A of the ATG translation initiation codon. All the variants identified both in COL8A2 and SLC4A11 were shown in this table. Asterisk (*) indicates novel variants identified in this study. NS means Not Significant. P value is considered to be statistically significant if P < 0.05.

ISSN: 1471-2415