Table 2. Nominally associated mtDNA SNPs in discovery and follow-up in confirmation.

	Discovery					Confirmation
SNP a	MAF cases [%] b	MAF controls [%] b	Odds Ratio	Confidence Interval c	p-value d	MAF cases [%] b	MAF controls [%] b	Odds Ratio	Confidence Interval c	p-value d
All	n = 1,158	n = 435				n = 1,697	n = 2,373
m.8994G/A	1.30	3.92	0.32	0.15–0.69	0.002	3.24	2.41	1.36	0.92–2.02	0.120
Males	n = 508	n = 171				n = 828	n = 930
m.8994G/A	0.79	2.94	0.26	0.05–1.23	0.048	2.78	2.16	1.30	0.68–2.51	0.441
m.11674C/T	0.59	3.51	0.16	0.03–0.78	0.010	2.06	1.63	1.27	0.63–2.56	0.593
Females	n = 650	n = 264				n = 869	n = 1,443
m.4769A/G	3.38	0.76	4.60	1.12–40.6	0.022	2.99	2.36	1.28	0.76–2.15	0.348
m.8994G/A	1.69	4.55	0.36	0.14–0.91	0.019	3.68	2.57	1.45	0.87–2.41	0.132
m.12612A/G	8.00	2.88	0.58	0.36–0.95	0.023	10.60	9.01	1.20	0.90–1.59	0.216
m.13708G/A	9.12	13.69	0.61	0.38–0.98	0.040	10.87	12.81	1.08	0.83–1.42	0.238

^amtDNA position according to rCRS [29].

^bMAF, minor allele frequency.

^c95% confidence of odds ratio for minor allele.

^dFisher's exact test, two-sided, p-values below 0.05 are highlighted in bold.