Table 1.

Epigenome-wide association and meta-analysis of mtDNA CN (P < 1 × 10⁻⁷) in 6182 participants

IlmnID	Effect size	SE	P	Chr	MAPINFO	Gene name	CpG island	Relation CpG island
cg21848084	−2.158	0.391	3.4E-08	1	3 264 381	PRDM16
cg27187555	−1.478	0.266	2.9E-08	1	3 269 252	PRDM16
cg21393163	3.029	0.474	1.7E-10	1	12 217 629
cg00988037	−1.548	0.276	2.0E-08	1	54 869 007	SSBP	chr1:54870853–54 872 476	N_Shore
cg05673882	1.456	0.261	2.3E-08	5	74 862 702	POLK
cg04368724	−1.749	0.294	2.8E-09	6	31 760 593	VARS	chr6:31763240–31 763 905	N_Shelf
cg04018738	−1.446	0.256	1.6E-08	6	31 760 616	VARS	chr6:31763240–31 763 905	N_Shelf
cg17619755	−1.479	0.219	1.4E-11	6	31 760 629	VARS	chr6:31763240–31 763 905	N_Shelf
cg02980249	−2.219	0.317	2.7E-12	6	31 760 762	VARS	chr6:31763240–31 763 905	N_Shelf
cg02597894	−2.586	0.356	3.7E-13	6	31 760 796	VARS	chr6:31763240–31 763 905	N_Shelf
cg08899667	−2.333	0.315	1.3E-13	6	31 761 055	VARS	chr6:31763240–31 763 905	N_Shelf
cg22761205	−2.205	0.404	5.0E-08	11	457 256	PTDSS2	chr11:459088–459 345	N_Shore
cg24420089	−1.784	0.309	7.6E-09	11	457 304	PTDSS2	chr11:459088–459 345	N_Shore
cg03732020	−2.246	0.401	2.2E-08	11	47 282 968	NR1H3
cg09548275	−1.715	0.312	3.8E-08	11	47 282 999	NR1H3
cg10713715	−2.567	0.451	1.3E-08	11	63 533 656	C11orf95	chr11:63535652–63 537 435	N_Shore
cg02194129	−2.237	0.360	5.3E-10	14	1.04E+08	XRCC3
cg27192248	0.712	0.120	3.1E-09	15	65 285 669		chr15:65281928–65 282 375	S_Shelf
cg20507228	−1.329	0.231	9.1E-09	15	91 460 071	MAN2A2
cg04983687	−1.624	0.294	3.4E-08	16	88 558 223	ZFPM1	chr16:88558051–88 558 329	Island
cg26094004	−2.331	0.238	1.3E-22	17	42 075 116	PYY	chr17:42072138–42 072 444	S_Shelf

We performed cohort- and race-specific association analysis of mtDNA CN as the outcome variable with DNA methylation. Inverse variance-weighted fixed effect model was used in all meta-analyses.