Table 3:

All genome-wide significant (P<5×10⁻⁸) SNP associations with post-diagnosis fracture risk identified among female survivors in the discovery cohort, compared to male survivors

						Female survivors, discovery cohort (CCSS, N=1,289)			Male survivors, discovery cohort (CCSS, N=1,164)			Sex heterogeneitya
Locus	SNP	Chr	BP	EA	NEA	EAF	HR (95% CI)	P	EAF	HR (95% CI)	P	Effects	Psex-het
3q13.33 (CD86)	rs4315642	3	121836049	C	T	0.28	0.64 (0.54 to 0.75)	4.1×10−8	0.29	1.08 (0.95 to 1.24)	0.24	−+	8.1×10−7
	rs2681399	3	121835908	G	A	0.28	0.64 (0.54 to 0.75)	4.7×10−8	0.29	1.09 (0.95 to 1.25)	0.23	−+	7.9×10−7
	rs2681400	3	121837377	T	C	0.28	0.64 (0.54 to 0.75)	4.7×10−8	0.29	1.08 (0.95 to 1.24)	0.25	−+	9.6×10−7
16p13.3 (HAGHL)	rs12448432	16	778820	A	G	0.19	1.55 (1.33 to 1.81)	1.2×10−8	0.20	0.91 (0.78 to 1.07)	0.26	+−	2.2×10−6
	rs1406815	16	778158	G	C	0.19	1.55 (1.33 to 1.80)	1.5×10−8	0.21	0.92 (0.78 to 1.07)	0.28	+−	3.0×10−6
	rs9928077	16	784765	T	C	0.19	1.54 (1.32 to 1.79)	2.6×10−8	0.21	0.92 (0.78 to 1.07)	0.28	+−	3.9×10−6
	rs12597563	16	787738	C	G	0.17	1.57 (1.34 to 1.84)	2.8×10−8	0.18	0.91 (0.77 to 1.08)	0.29	+−	4.1×10−6

^a.For sex heterogeneity testing, a Bonferroni-corrected p-value threshold was used (P<0.05/[41 evaluated SNPs with suggestive significance in sex-specific discovery analyses]=1.2×10⁻³) to assess statistical significance. The direction of the fracture risk associations by sex are provided in the “Effects” column, with results in female survivors presented first [left] followed by results in male survivors [right]; “-“ corresponds to decreasing risk and “+” corresponds to increasing risk.

Abbreviations: SNP, single nucleotide polymorphism; Chr, chromosome; BP, base position, GRCh37 (hg19) build; EA, effect (risk) allele; NEA, non-effect (reference) allele; EAF, effect allele frequency; HR, hazard ratio; CI, confidence interval; P_sex-het, sex heterogeneity test p-value.