Table 1

Genetic associations with osteoarthritis established with genome-wide significance following replication in at least one independent dataset

SNP	Nearest* gene(s)	EA	EAF	OR, 95% CI	p Value	Site	Sex	Ethnic group	Source
rs143383†	GDF5	T	0.74	1.79,1.53 to 2.09	2×10⁻¹³	Hip	Both	Asian	11
rs143383†	GDF5	T	NA	1.16, 1.11 to 1.22	8.3×10⁻⁰⁹	Knee	Both	European	13
rs7639618	DVWA	G	0.63	1.43, 1.28 to 1.59	7.3×10⁻¹¹	Knee	Both	Asian	15
rs7775228‡	HLA-DQB1	T	0.62	1.34, 1.21 to 1.49	2.4×10⁻⁰⁸	Knee	Both	Asian	16
rs10947262‡	BTNL2	C	0.58	1.31, 1.20 to 1.44	5.1×10⁻⁰⁹	Knee	Both	Asian and European	16
rs3815148§	COG5¶	C	0.23	1.14, 1.09 to 1.19	8×10⁻⁰⁸	Knee and hand	Both	European	17
rs4730250§	DUS4L¶	G	0.17	1.17, 1.11 to 1.24	9.2×10⁻⁹	Knee	Both	European	18
rs11842874	MCF2L	A	0.93	1.17, 1.11 to 1.23	2.1×10⁻⁰⁸	Knee and hip	Both	European	19
rs6976**	GLT8D1††	T	0.37	1.12, 1.08 to 1.16	7.2×10⁻¹¹	Hip and knee	Both	European	20
rs11177**	GNL3††	A	0.38	1.12, 1.08 to 1.16	1.3×10⁻¹⁰	Hip and knee	Both	European	20
rs4836732	ASTN2	C	0.47	1.2, 1.13 to 1.27	6.1×10⁻¹⁰	Hip	Females	European	20
rs9350591	FILIP1; SENP6	T	0.11	1.18, 1.12 to 1.25	2.4×10⁻⁰⁹	Hip	Both	European	20
rs10492367	KLHDC5; PTHLH	T	0.19	1.14, 1.09 to 1.20	1.5×10⁻⁰⁸	Hip	Both	European	20
rs835487	CHST11	G	0.34	1.13, 1.09 to 1.18	1.6×10⁻⁰⁸	Hip	Both	European	20
rs12107036	TP63	G	0.52	1.21, 1.13 to 1.29	6.7×10⁻⁰⁸	Knee	Females	European	20
rs8044769‡‡	FTO	C	0.5	1.11, 1.07 to 1.15	6.9×10⁻⁰⁸	Hip and knee	Females	European	20
rs10948172	SUPT3H; CDC5L	G	0.29	1.14, 1.09 to 1.20	7.9×10⁻⁰⁸	Hip and knee	Males	European	20
rs6094710	NCOA3	A	0.04	1.28, 1.18 to 1.39	7.9×10⁻⁹	Hip	Both	European	22
rs12982744	DOT1L	C	NA	1.17, 1.11 to 1.23	7.8×10⁻⁹	Hip	Males	European	21

*Nearest gene(s) only shown.
†Summary statistics of the same SNP in separate studies in Asians and Europeans, respectively.
‡SNPs in strong linkage disequilibrium.
§SNPS in strong linkage disequilibrium.
¶chr7q22 locus encompasses more genes than shown here, for full details see Kerkhof et al17 and Day-Williams et al.19
**SNPs in strong linkage disequilibrium.
††chr3p21.1 locus encompasses more genes than shown here, for full details see arcOGEN Consortium.20
‡‡This signal was attenuated after BMI adjustment, suggesting that the FTO locus exerts its effect on OA through obesity.
BMI, body mass index; EA, Effect allele; EAF, effect allele frequency; OA, osteoarthritis; SNP, single nucleotide polymorphism.