Table 8.

Genome wide significant single nucleotide polymorphisms (SNPs) for fracture. Table reproduced with permission from Trajanoska et al, 2018⁴¹

Locus	Candidate gene	SNP	Distance to gene (kb)	EA	EAF	Discovery stage*			Replication stage*			Combined*
						Odds ratio (95% CI)	P		Odds ratio (95% CI)	P		Odds ratio (95% CI)	P	No of fracture cases	I2
2p16.2	SPTBN1	rs4233949	−23.21	G	0.61	1.03 (1.02 to 1.05)	6.9×10−5		1.04 (1.05 to 1.05)	8.9×10−11		1.03 (1.02 to 1.04)	2.8×10−14	185 057	22.4
3p22.1	CTNNB1	rs430727	107.2	T	0.45	1.03 (1.02 to 1.05)	1.0×10−4		1.03 (1.02 to 1.04)	1.1×10−8		1.03 (1.02 to 1.04)	5.0×10−12	185 057	0
6q22.33	RSPO3	rs10457487	0	C	0.51	1.06 (1.05 to 1.08)	2.3×10−15		1.04 (1.03 to 1.05)	1.7×10−15		1.05 (1.04 to 1.06)	4.8×10−28	185 057	5
6q25.1	ESR1	rs2982570	0	C	0.58	1.05 (1.04 to 1.07)	8.1×10−12		1.03 (1.02 to 1.04)	5.2×10−10		1.04 (1.03 to 1.05)	4.5×10−19	185 057	23
7q31.31	WNT16, CPED1	rs2908007	−3.25, 24.67	A	0.60	1.08 (1.06 to 1.10)	1.2×10−20		1.05 (1.04 to 1.06)	5.6×10−22		1.06 (1.05 to 1.07)	2.3×10−39	185 055	0
7q21.3	C7orf76, SHFM1	rs6465508	0, 0	G	0.34	1.05 (1.03 to 1.07)	4.0×10−9		1.04 (1.03 to 1.05)	4.1×10−12		1.04 (1.03 to 1.05)	2.0×10−19	185 056	35
7p14.1	STARD3NL	rs6959212	−89.01	T	0.34	1.04 (1.02 to 1.06)	6.9×10−6		1.02 (1.01 to 1.04)	1.1×10−5		1.03 (1.02 to 1.04)	8.8×10−10	185 057	15.6
7p12.1	GRB10, COBL	rs1548607	40.33, −182.4	G	0.32	1.05 (1.03 to 1.07)	3.2×10−8		1.02 (1.01 to 1.04)	2.1×10−4		1.03 (1.02 to 1.05)	4.7×10−10	185 052	40
9q34.11	FUBP3	rs7851693	0	G	0.35	1.03 (1.01 to 1.06)	1.3×10−4		1.05 (1.06 to 1.06)	4.8×10−16		1.04 (1.03 to 1.05)	5.0×10−19	185 057	23.5
10q21.1	MBL2/DKK1	rs11003047	−90.63	G	0.11	1.09 (1.07 to 1.12)	6.2×10−12		1.08 (1.07 to 1.10)	1.4×10−21		1.09 (1.07 to 1.10)	9.5×10−33	185 057	0
11q13.2	LRP5	rs3736228	0	T	0.15	1.05 (1.03 to 1.07)	3.0×10−5		1.07 (1.05 to 1.08)	2.8×10−18		1.06 (1.05 to 1.08)	1.0×10−21	185 056	24.6
14q32.12	RPS6KA5	rs1286083	0	T	0.82	1.04 (1.02 to 1.06)	8.8×10−5		1.05 (1.04 to 1.07)	3.0×10−14		1.05 (1.04 to 1.06)	1.6×10−17	185 085	43.3
17q21.31	SOST, DUSP3, MEOX1	rs2741856	−4.26, −16.65, 88.02	G	0.92	1.11 (1.08 to 1.14)	2.4×10−12		1.08 (1.06 to 1.11)	5.3×10−15		1.10 (1.07 to 1.11)	3.1×10−25	184 977	0
18p11.21	FAM210A, RNMT	rs4635400	0, −7.149	A	0.36	1.06 (1.04 to 1.07)	1.5×10−12		1.03 (1.02 to 1.04)	2.7×10−9		1.04 (1.03 to 1.05)	1.1×10−18	185 057	22
21q22.2	ETS2	rs9980072	141.9	G	0.73	1.06 (1.04 to 1.08)	8.4×10−12		1.03 (1.01 to 1.04)	1.8×10−5		1.04 (1.03 to 1.05)	3.4×10−13	185 057	36

EA=effect allele; EAF=effect allele frequency; I²=index of heterogeneity.

^*Discovery stage (37 857 cases; 227 116 controls); replication stage (147 200 cases; 150 085 controls); combined (185 057 cases; 377 201 controls).