DNA-repair gene variants are associated with glioblastoma survival

Figures & data

Figure 1. Samples’ exclusion schema. The use of each dataset is indicated in italics.

Table I. Distribution of clinical characteristics.

	UK-north n = 121	Sweden n = 75	Denmark n = 63	Total^a n = 138
Survival (months)
Mean	14.8	16.5	15.2	15.9
Median (range)	11.3 (2.2–78.8)	12.5 (2.1–71.8)	14.2 (1.0–51.9)	12.9 (1.0–71.8)
Gross total resection
Yes		17 (22.7%)	21 (33.3%)	38 (27.6%)
No		53 (70.7%)	41 (65.1%)	94 (68.1%)
N/A	121 (100%)	5 (6.6%)	1 (1.6%)	6 (4.3%)
Chemotherapy
Yes		53 (70.7%)	13 (20.6%)	66 (47.8%)
No		18 (24.0%)	43 (68.3%)	61 (44.2%)
N/A	121 (100%)	4 (5.3%)	7 (11.1%)	11 (8.0%)
Radiotherapy
Yes		65 (86.7%)	53 (84.1%)	118 (85.5%)
No		9 (12.0%)	8 (12.7%)	17 (12.3%)
N/A	121 (100%)	1 (1.3%)	2 (3.2%)	3 (2.2%)
Number of deaths	116 (95.9%)	69 (92.0%)	61 (96.8%)	130 (94.2%)
Sex
Male	78 (64.5%)	45 (60.0%)	38 (60.3%)	83 (61.1%)
Female	43 (35.5%)	30 (40.0%)	25 (39.7%)	55 (39.9%)
Age at diagnosis median (years)	55	56	55	56

^aSummary of datasets from Sweden and Denmark (i.e., the Swedish-Danish dataset).

Figure 2. Kaplan-Meier plots illustrating the survival times related to the different gene variants in the Swedish-Danish dataset. GT 0, GT 1, and GT 2 represent the common homozygote, the heterozygote, and the rare homozygote, respectively. The x-axes represent survival time measured in months.

Table II. Allelic variants associated with survival, based on 121 patients in the Swedish-Danish dataset with complete data.

rs#	Chr#	Gene	Role	Major Allele	Genotype	n^a	%^b	Surv.^c	HR^d	CI95%^e	P^f	Adj. P^g
rs2042649	chr2	MSH2	Intron	T	T/T	100	82.64%	13.32
					C/T	21	17.36%	10.65	1.66	(1.017–2.709)	0.043	0.547
					C/C	0	0.00%
rs2303428	chr2	MSH2	Intron (boundary)	T	T/T	100	82.64%	13.32
					C/T	21	17.36%	10.65	1.66	(1.017–2.709)	0.043	0.547
					C/C	0	0.00%
rs2038565	chr14	RAD51L1	Intron	G	G/G	86	71.07%	13.52
					G/T	32	26.45%	11.19	1.456	(0.921–2.303)	0.108	0.819
					T/T	3	2.48%	2.73	3.973	(1.154–13.675)	0.029	0.384
rs6573805	chr14	RAD51L1	Intron	A	A/A	83	68.60%	13.41
					A/G	35	28.93%	11.89	1.009	(0.649–1.569)	0.967	1
					G/G	3	2.48%	2.73	3.759	(1.094–12.917)	0.036	0.440
rs8022206	chr14	RAD51L1	Intron	G	G/G	86	71.07%	13.52
					A/G	32	26.45%	11.19	1.456	(0.921–2.303)	0.108	0.819
					A/A	3	2.48%	2.73	3.973	(1.154–13.675)	0.029	0.384
rs11626809	chr14	RAD51L1	Intron	G	G/G	93	76.86%	12.85
					G/T	24	19.83%	14.65	1.053	(0.640–1.732)	0.84	1
					T/T	4	3.31%	3.89	4.328	(1.453–12.891)	0.009	0.177
rs17192586	chr14	RAD51L1	Intron	G	G/G	86	71.07%	13.52
					A/G	32	26.45%	11.19	1.456	(0.921–2.303)	0.108	0.819
					A/A	3	2.48%	2.73	3.973	(1.154–13.675)	0.029	0.384
rs756627	chr8	RECQL4	Intron (boundary)	G	G/G	30	24.79%	10.56
					A/G	72	59.50%	12.81	0.671	(0.425–1.060)	0.087	0.758
					A/A	19	15.70%	15.77	0.218	(0.107–0.442)	0.000	0.002
rs3757966	chr8	RECQL4	Promotor	G	G/G	31	25.62%	10.65
					A/G	69	57.02%	12.85	0.692	(0.440–1.087)	0.11	0.822
					A/A	21	17.36%	15.47	0.266	(0.136–0.523)	0.000	0.007

^aNumber of patients. ^bPercent of patients. ^cMedian survival, measured in months. ^dHazard ratio (HR). ^e95% confidence interval for the hazard ratio. ^fP-value, adjusted for country, sex, age, surgery (radical or not), radio- and chemotherapy. ^gP-value, further adjusted by permutation.

Figure 3. Linkage disequilibrium (LD) plot of the five SNPs found significantly associated with survival, mapping to the RAD51L1 gene. The shading of each box represents r² values, ranging from white (r² = 0) to black (r² = 1). The numeric r² value is given within each box.