Table 2 Genotyping of rs2054564 in each cohort.

Cohort		Case (DSN ≥ 2)						Control						OR	95% CI	P-value
Cohort		N	CC	CT	TT	Freq of C	HWE P-value	N	CC	CT	TT	Freq of C	HWE P-value	OR	95% CI	P-value
Tokyo-1	M	20	16	4	0	0.900	0.73	64	29	29	6	0.680	0.98	4.24	1.42–12.7
Tokyo-1	F	74	50	20	4	0.811	0.68	89	43	38	8	0.697	1.00	1.87	1.11–3.14
Tokyo-2	M	29	16	11	2	0.741	0.86	98	50	39	9	0.709	0.96	1.18	0.61–2.28
Tokyo-2	F	112	71	36	5	0.795	0.95	138	61	64	13	0.674	0.92	1.87	1.24–2.82
Wakayama-1	M	29	20	7	2	0.810	0.82	91	42	39	10	0.676	0.98	2.05	0.99–4.24
Wakayama-1	F	76	46	28	2	0.789	0.83	115	51	53	11	0.674	0.93	1.81	1.13–2.93
Wakayama-2	M	25	15	10	0	0.800	0.53	73	35	32	6	0.699	0.98	1.73	0.79–3.76
Wakayama-2	F	48	31	15	2	0.802	0.86	110	53	37	20	0.650	0.14	2.18	1.23–3.87
Niigata	M	28	19	7	2	0.804	0.82	63	25	34	4	0.667	0.46	2.05	0.96–4.36
Niigata	F	69	45	20	4	0.797	0.68	70	27	37	6	0.650	0.65	2.12	1.23–3.63
Meta-analysis of four cohorts (ex. Tokyo-1)		416	263	134	19	0.793	0.94	758	344	335	79	0.675	0.99	1.87	1.52–2.28	3.05E−09*
Meta-analysis of all cohorts		510	329	158	23	0.800	0.86	911	416	402	93	0.677	0.99	1.92	1.60–2.32	1.17 E−11*

M male, F female, N number; Freq frequency, HWE Hardy–Weinberg equilibrium, OR odds ratio, CI confidence interval, DSN disc space narrowing.
*Statistically significant with a genome-wide significance threshold of P-value < 5.0 × 10^–8.

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