. Author manuscript; available in PMC: 2021 Nov 17.

Published in final edited form as: Nat Genet. 2021 May 17;53(7):982–993. doi: 10.1038/s41588-021-00868-1

Table 2. mtSNV associations with height, airways function and longevity.

Trait	Locus	rsID; position (EA, EAF)	AA change	beta	se	P (FDR)	Haplogroup
Height	RNR1	rs267606617; 1555 (G,0.002)^G	-	-0.060	0.020	4.3x10^-5 (0.05)	na
	ND5	rs28359172; 12612 (G, 0.11)^G	V92V	-0.010	0.003	2.0x10^-6 (0.005)	J; K1a4c1
Airway function (FeV1/FVC)	ND4	rs3088053; 11812 (G, 0.0001)^G	L351L	-0.001	0.0003	1.9x10^-5 (0.03)	T2
Longevity
Mother’s age	CO2	rs3021089; 8251 (A, 0.06)^M	G222G	0.020	0.003	1.5x10^-5 (0.03)	homoplastic
	DLOOP	rs2853513; 16223 (T, 0.07)^Ga	-	0.020	0.003	9.6x10^-6 (0.02)	homoplastic
Parent’s age	CO2	rs3021089; 8251 (A, 0.06)^M	G222G	0.020	0.003	1.6x10^-5 (0.03)	homoplastic
	DLOOP	rs2853513; 16223 (T, 0.07)^Ga	-	0.020	0.003	1.1x10^-5 (0.02)	homoplastic

Summary of the single-variant mitochondrial PheWas associations identified with height (N=358,045, participants), airways function (N=266,818, participants) and longevity (up to 348,257 participants) traits, found at discovery P<5x10^-5. Z score: when both parents’ ages were modelled together, they were first standardised within sex prior to the analysis. Locus = mtDNA encoded gene. rsID = SNP id as of dbSNP 153. Position = mtDNA nucleotide position on rCRS (NC_012920). EA = effect allele. EAF=effect allele frequency, calculated on the set of samples with non-missing genotype/covariates. AA change = amino acid change. Beta = effect size of the association. se = standard error. P = P-value for association of the EA with the listed trait. FDR = False Discovery Rate calculated with Benjamini-Hochberg procedure. Haplogroup = Haplogroup(s) defined by the EA, according to Phylotree (build 17); SNVs tagging more than two European haplogroups are reported as “homoplastic”; “na” values indicate alleles that were not observed in Phylotree (build 17). FeV1 = Forced expiratory Volume in 1 sec; FVC = Forced Volume Capacity. G = genotyped; M = mixed, i.e. genotyped one array only and imputed on the other; Ga = mtSNVs genotyped on one array only (i.e. either the UKBB array or the UKBL array) and not imputed on the other array (or excluded because of low INFO score on the other array).