Supplementary Table 10.

Distribution of genotypes of the 46438521G>C – NEIL1, c.2285T>C – PARP-1, c.–1370T>A – POLG, c.580C>T – XRCC1 and c.1196A>G – XRCC1 polymorphisms stratified by sex in patients with Fuchs endothelial corneal dystrophy (FECD) and controls.

Polymorphism genotype/allele	Controls	FECD	Crude OR (95% CI)	p	Adjusted OR* (95% CI)	p
	Number (frequency)
g.46438521G>C NEIL1
Women
C/C	60 (0.27)	43 (0.22)	0.79 (0.50–1.24)	0.302	0.67 (0.40–1.13)	0.136
C/G	153 (0.68)	142 (0.74)	1.32 (0.86–2.02)	0.206	1.48 (0.91–2.42)	0.114
G/G	11 (0.05)	7 (0.04)	0.73 (0.28–1.93)	0.529	0.82 (0.28–2.40)	0.713
C	273 (0.61)	228 (0.59)	0.88 (0.60–1.30)	0.525	0.77 (0.50–1.20)	0.256
G	175 (0.39)	156 (0.41)	1.13 (0.77–1.67)	0.525	1.29 (0.83–2.01)	0.256
Men
C/C	38 (0.29)	10 (0.17)	0.50 (0.33–1.09)	0.080	0.66 (0.27–1.62)	0.364
C/G	87 (0.67)	46 (0.79)	1.85 (0.89–3.86)	0.100	1.60 (0.69–3.76)	0.282
G/G	4 (0.03)	2 (0.03)	1.12 (0.20–6.27)	0.901	0.54 (0.09–3.41)	0.516
C	163 (0.63)	66 (0.57)	0.58 (0.30–1.12)	0.107	0.80 (0.38–1.69)	0.557
G	95 (0.37)	50 (0.43)	1.73 (0.89–3.37)	0.107	1.25 (0.59–2.64)	0.557
c.2285T>C PARP-1
Women
A/A	157 (0.70)	125 (0.65)	0.80 (0.53–1.20)	0.278	0.95 (0.59–1.52)	0.836
A/G	67 (0.30)	67 (0.35)	1.25 (0.83–1.90)	0.278	1.05 (0.66–1.67)	0.836
G/G	0 (0.00)	0 (0.00)	–	–	–	–
A	381 (0.85)	317 (0.83)	0.80 (0.53–1.20)	0.278	0.95 (0.59–1.52)	0.836
G	67 (0.15)	67 (0.17)	1.25 (0.83–1.90)	0.278	1.05 (0.66–1.67)	0.836
Men
A/A	82 (0.64)	41 (0.71)	1.27 (0.65–2.49)	0.479	1.60 (0.72–3.53)	0.245
A/G	47 (0.36)	17 (0.29)	0.78 (0.40–1.53)	0.479	0.62 (0.28–1.38)	0.245
G/G	0 (0.00)	0 (0.00)	–	–	–	–
A	211 (0.82)	99 (0.85)	1.27 (0.65–2.49)	0.479	1.60 (0.72–3.53)	0.245
G	47 (0.18)	17 (0.15)	0.78 (0.40–1.53)	0.479	0.62 (0.28–1.38)	0.245
c.–1370T>A POLG
Women
A/A	30 (0.13)	30 (0.16)	1.19 (0.69–2.07)	0.519	1.16 (0.62–2.14)	0.645
A/T	125 (0.56)	108 (0.56)	1.02 (0.69–1.50)	0.927	1.25 (0.81–1.95)	0.316
T/T	69 (0.31)	54 (0.28)	0.88 (0.57–1.34)	0.551	0.70 (0.43–1.13)	0.146
A	185 (0.41)	168 (0.44)	1.12 (0.83–1.52)	0.440	1.25 (0.89–1.76)	0.200
T	263 (0.59)	216 (0.56)	0.89 (0.66–1.20)	0.440	0.80 (0.57–1.13)	0.200
Men
A/A	16 (0.12)	5 (0.09)	0.67 (0.23–1.91)	0.451	0.84 (0.26–2.67)	0.770
A/T	78 (0.60)	36 (0.62)	1.07 (0.57–2.02)	0.835	1.38 (0.65–2.92)	0.406
T/T	35 (0.27)	17 (0.29)	1.11 (0.56–2.21)	0.758	9.75 (0.33–1.70)	0.492
A	110 (0.43)	46 (0.40)	0.85 (0.51–1.42)	0.532	1.11 (0.62–2.00)	0.724
T	148 (0.57)	70 (0.60)	1.18 (0.79–1.98)	0.532	0.90 (0.50–1.62)	0.724
c.580C>T XRCC1
Women
C/C	198 (0.88)	169 (0.88)	0.96 (0.53–1.75)	0.907	1.03 (0.53–1.98)	0.937
C/T	26 (0.12)	23 (0.12)	1.04 (0.57–1.88)	0.907	0.97 (0.50–1.87)	0.937
T/T	0 (0.00)	0 (0.00)	–	–	–	–
C	418 (0.93)	357 (0.93)	0.94 (0.54–1.65)	0.843	0.89 (0.48–1.65)	0.704
T	30 (0.07)	27 (0.07)	1.06 (0.60–1.85)	0.843	1.13 (0.61–2.09)	0.704
Men
C/C	107 (0.83)	54 (0.93)	2.78 (0.91–8.46)	0.073	1.56 (0.35–6.88)	0.557
C/T	22 (0.17)	4 (0.07)	0.36 (0.12–1.10)	0.073	0.64 (0.145–2.83)	0.557
T/T	0 (0.00)	0 (0.00)	–	–	–	–
C	235 (0.91)	111 (0.96)	2.30 (0.83–6.39)	0.110	1.53 (0.36–6.53)	0.564
T	23 (0.09)	5 (0.04)	0.43 (0.16–1.21)	0.110	0.65 (0.15–2.78)	0.564
c.1196A>G XRCC1
Women
A/A	50 (0.22)	54 (0.28)	1.36 (0.87–2.12)	0.174	1.39 (0.84–2.28)	0.200
A/G	137 (0.61)	112 (0.58)	0.89 (0.60–1.32)	0.558	0.82 (0.53–1.28)	0.391
G/G	37 (0.17)	26 (0.14)	0.79 (0.46–1.36)	0.399	0.89 (0.48–1.64)	0.702
A	237 (0.53)	220 (0.57)	1.25 (0.91–1.71)	0.155	1.22 (0.86–1.73)	0.267
G	211 (0.47)	164 (0.43)	0.80 (0.59–1.09)	0.155	0.82 (0.58–1.16)	0.267
Men
A/A	22 (0.17)	20 (0.34)	2.56 (1.26–5.20)	0.009	1.05 (1.02–1.08)	<0.001
A/G	81 (0.63)	31 (0.53)	0.68 (0.36–1.27)	0.229	0.79 (0.37–1.66)	0.532
G/G	26 (0.20)	7 (0.12)	0.54 (0.22–1.34)	0.184	0.38 (0.11–1.34)	0.133
A	125 (0.48)	71 (0.61)	1.94 (0.16–3.30)	0.012	2.07 (1.09–3.92)	0.026
G	133 (0.52)	45 (0.39)	0.52 (0.31–0.86)	0.012	0.48 (0.25–0.92)	0.026

p values <0.05 along with corresponding ORs are in bold;

^*OR adjusted for co-occurrence of visual impairment, sex, age and family history for FECD.