Table 1 –

Prostate cancer risk associated with the germline variant rs72725854 by family history ^a,b of prostate cancer and age at diagnosis

Group	N	Risk allele frequency (%)	Carrier frequency (%)	Homozygote genotype frequency (%)	Heterozygote genotype			Homozygote variant genotype
					Frequency (%)	OR (95% CI)	p value	Frequency (%)	OR (95% CI)	p value
Controls (reference group)	8595	6.0	11.6	88.3	11.3			0.35
Cases	9052	12.6	23.7	76.3	22.3	2.29 (2.10–2.49)	6.7E-81	1.4	5.04 (3.36–7.55)	5.2E-15
Cases with at least 1 first-degree relative with prostate cancer	1795	14.8	27.4	72.6	25.1	2.67 (2.34–3.04)	1.6E-48	2.3	8.66 (5.22–14.37)	6.8E-17
Cases with no family history of prostate cancer	6125	11.9	22.7	77.4	21.5	2.17 (1.97–2.38)	1.1E-59	1.2	4.31 (2.77–6.71)	8.8E-11
Cases with age at diagnosis <60 yr	2923	15.1	28.2	71.8	26.2	2.63 (2.32–2.97)	5.9E-52	2.0	6.84 (4.09–11.44)	2.4E-13
Cases with age at diagnosis ≥60 yr	6129	11.4	21.6	78.4	20.4	2.10 (1.90–2.31)	2.6E-49	1.2	4.22 (2.69–6.63)	4.2E-10
Cases with at least 1 first-degree relative with prostate cancer and case age at diagnosis <60 yr	688	16.9	30.8	69.2	27.9	2.85 (2.33–3.49)	1.4E-24	2.9	11.56 (6.00–22.27)	2.5E-13
Familial cases	143	17.8	32.2	67.8	28.7	3.33 (2.29–4.85)	3.3E-10	3.5	13.92 (5.15–37.63)	2.1E-07
Familial cases with ≥2 first-degree relatives with prostate cancer	76	19.1	32.9	67.1	27.6	3.23 (1.92–5.41)	8.8E-06	5.3	21.20 (7.04–63.83)	5.6E-08
Familial cases with ≥2 first-degree relatives with prostate cancer and age at diagnosis <60 yr (any relative)	51	23.5	39.2	60.8	31.4	3.92 (2.13–7.22)	1.2E-05	7.8	33.41 (10.86–102.84)	9.5E-10

CI =confidence interval; OR = odds ratio.

^aControls are limited to 8594 for comparisons with the 143 familial cases, as one control is a full sibling of one of the familial cases.

^bFamily history in nonfamilial cases and controls includes first- or second-degree relatives with prostate cancer.