DNA repair genes XPD and XRCC1 polymorphisms and risk of end-stage renal disease in Egyptian population

Figures & data

Figure 1. XPD 312 genotypes on ethidium bromide stained 3% agarose gel. Lanes 1, 2 and 7 are homozygous Asp/Asp genotype. Lanes 3, 4, 5 and 9 are heterozygous Asp/Asn genotype. Lane 6 is homozygous Asn/Asn genotype. Lane 8 is 100 bp ladder.

Figure 2. XPD 751 genotypes on ethidium bromide stained 3% agarose gel. Lanes 1, 6 and 9 are homozygous Lys/Lys genotype. Lanes 2 and 4 are heterozygous Lys/Gln genotype. Lanes 3, 5, 7 and 10 are homozygous Gln/Gln genotype. Lane 8 is 100 bp ladder.

Figure 3. XRCC1 399 genotypes on ethidium bromide stained 3% agarose gel. Lanes 1, 4, 5, 7 and 11 are homozygous Arg/Arg genotype. Lanes 2, 3, 6 and 10 are heterozygous Arg/Gln genotype. Lane 9 is homozygous Gln/Gln genotype. Lane 8 is 100 bp ladder.

Table 1. Distribution of XPD and XRCC1 genotype polymorphisms in patients and controls.

Polymorphism	Controls (n = 102) N (%)	Patients (n = 98) N (%)	χ^2	p Value	OR (95% CI)
XPD 312
Asp/Asp	42 (41.2)	42 (42.9)			Reference
Asp/Asn	46 (45.1)	44 (44.9)	0.00	0.99	0.96 (0.53–1.73)
Asn/Asn	14 (13.7)	12 (12.2)	0.01	0.90	0.86 (0.35–2.07)
Both (Asp/Asn-Asn/Asn)	60 (58.8)	56 (57.1)	0.01	0.92	0.93 (0.53–1.64)
Asp allele frequency	0.64	0.65			Reference
Asn allele frequency	0.36	0.35	0.01	0.93	0.93 (0.52–1.67)
XPD 751
Lys/Lys	43 (42.2)	40 (40.8)			Reference
Lys/Gln	43 (42.2)	44 (44.9)	0.02	0.87	1.10 (0.60–2.01)
Gln/Gln	16 (15.7)	14 (14.3)	0.00	0.94	0.94 (0.41–2.17)
Both (Lys/Gln-Gln/Gln)	59 (57.8)	58 (59.2)	0.00	0.96	1.06 (0.60–1.86)
Lys allele frequency	0.63	0.63			Reference
Gln allele frequency	0.37	0.37	0.00	0.94	0.98 (0.55–1.74)
XRCC1 399
Arg/Arg	68 (66.7)	42 (42.9)			Reference
Arg/Gln	30 (29.4)	46 (46.9)	8.13	0.004	2.48 (1.36–4.52)
Gln/Gln	4 (3.9)	10 (10.2)	4.36	0.03	4.05 (1.19–13.73)
Both (Arg/Gln-Gln/Gln)	34 (33.3)	56 (57.1)	10.51	0.001	2.67 (1.50–4.73)
Arg allele frequency	0.81	0.66			Reference
Gln allele frequency	0.19	0.34	5.12	0.02	2.22 (1.16–4.25)

Note: Data are expressed as number (%).

Table 2. Distribution of combined XPD and XRCC1 genotypes among ESRD patients and control.

Genotype combinations	Controls (n = 102)	Patients (n = 98)	χ^2	p Value	OR (95% CI)
XPD 312 and XRCC1 399
Asp/Asp and Arg/Arg	24 (23.5)	22 (22.4)			Reference
Asp/Asn or Asn/Asn and Arg/Gln or Gln/Gln	16 (15.6)	36 (36.7)	3.79	0.05	2.45 (1.08–5.60)
Asp/Asp and Arg/Gln or Gln/Gln	18 (17.6)	20 (20.4)	0.05	0.82	1.21(0.51–2.87)
Asp/Asn or Asn/Asn and Arg/Arg	44 (43.1)	20 (20.4)	2.45	0.11	0.50(0.23–1.09)
XPD 751 and XRCC1 399
Lys/Lys and Arg/Arg	23 (22.5)	18 (18.3)			Reference
Lys/Gln or Gln/Gln and Arg/Gln or Gln/Gln	14 (23.5)	34 (34.7)	5.54	0.01	3.10 (1.29–7.45)
Lys/Lys and Arg/Gln or Gln/Gln	20 (19.6)	22 (22.4)	0.31	0.58	1.41 (0.59–3.34)
Lys/Gln or Gln/Gln and Arg/Arg	45 (44.1)	24 (24.5)	0.56	0.45	0.68 (0.31–1.50)

Note: Data are expressed as number (%).

Table 3. Haplotype association of XPD 312 and XRCC1 399 with ESRD.

		Frequency
XPD 312	XRCC1 399	Total (n = 200)	Controls (n = 102)	Patients (n = 98)	OR (95% CI)	p Value
Asp	Arg	0.4726	0.47	0.4762	Reference	–
Asn	Arg	0.2674	0.3437	0.1871	0.58 (0.34–1.00)	0.051
Asp	Gln	0.1724	0.1672	0.1769	1.03 (0.52–2.04)	0.92
Asn	Gln	0.0876	0.0191	0.1599	8.35 (1.94–35.85)	0.0048

Table 4. Haplotype association of XPD 751 and XRCC1 399 with ESRD.

		Frequency
XPD 751	XRCC1 399	Total (n = 200)	Controls (n = 102)	Patients (n = 98)	OR (95% CI)	p Value
Lys	Arg	0.4546	0.4625	0.4463	Reference	–
Gln	Arg	0.2854	0.3512	0.2169	0.63 (0.37–1.08)	0.094
Lys	Gln	0.1779	0.1698	0.1863	1.17 (0.63–2.19)	0.61
Gln	Gln	0.0821	0.0165	0.1504	9.22 (2.14–39.71)	0.0032

Table 5. Haplotype association of XPD 312, XPD 751 and XRCC1 399 with ESRD.

			Frequency
XPD 312	XPD 751	XRCC1 399	Total (n = 200)	Controls (n = 102)	Patients (n = 98)	OR (95% CI)	p Value
Asp	Lys	Arg	0.3923	0.408	0.3821	Reference	–
Asp	Lys	Gln	0.1512	0.1454	0.1487	1.19 (0.56–2.52)	0.65
Asp	Gln	Arg	0.0797	0.0638	0.1038	1.60 (0.63–4.03)	0.32
Asn	Lys	Arg	0.0613	0.0581	0.0725	1.32 (0.50–3.48)	0.57
Asn	Gln	Gln	0.0593	0	0.1404	–	<0.0001
Asn	Lys	Gln	0.0277	0.0208	0.0292	1.35 (0.33–5.54)	0.68
Asp	Gln	Gln	0.0218	0.02	0.0184	–	0.89