Table 3.

Results of mtDNA Gene-Based Burden T1 and T5 Meta-Analysis Test (p ≤ 0.01)

Trait	Ancestry	T	Gene	p	Beta	SE	cMAFUsed	nSNVs
BMI	PA	0.05	MT-ND3	1.0E−03	0.007	0.002	0.290	82
BMI	PA	0.05	MT-TQ	2.0E−03	0.020	0.006	0.075	12
BMI	PA	0.05	MT-CO2	5.0E−03	0.003	0.001	0.491	155
HOMAB	PA	0.01	MT-TF	5.0E−03	0.038	0.014	0.022	5
HOMAB	PA	0.01	MT-TV	6.0E−03	0.088	0.032	0.009	2
HOMAB	PA	0.05	MT-RNR1	7.0E−03	0.002	0.001	1.323	119
HOMAIR	EA	0.05	MT-TG	7.0E−03	0.027	0.010	0.061	13
BMI	EA	0.05	MT-ND3	7.0E−03	0.006	0.002	0.194	81
HOMAB	PA	0.05	MT-TV	8.0E−03	0.031	0.011	0.078	6
BMI	EA	0.05	MT-TQ	8.0E−03	0.018	0.007	0.064	12
HOMAB	EA	0.05	MT-RNR1	9.0E−03	0.002	0.001	1.287	120
HOMAB	EA	0.05	MT-TF	9.0E−03	0.018	0.007	0.127	10
HOMAB	EA	0.05	MT-TV	9.0E−03	0.030	0.011	0.079	6
HOMAB	EA	0.01	MT-RNR1	1.0E−02	0.003	0.001	0.292	61

Abbreviations and definitions: Trait, the trait used for a specific test; PA, Pan ancestry; EA, European ancestry; T, MAF-value threshold for selecting SNVs to be included in the gene-based-burden association test; Gene, gene name from mtDNA; p, p value from the gene-based burden test; the score test of the weighted sum of genotypes has the form of statistic, $\mathit{T}={\sum }_{\mathit{j}}{\mathit{w}}_{\mathit{j}}{\mathit{U}}_{\mathit{j}}$, where w is a weight for SNV_j and U_j is the score statistic for SNV_j; Beta and SE are result of regressing the trait on a weighted sum of genotypes; cMAFUsed, cumulative minor allele frequency; nSNVs, the number of SNVs used in the gene-based burden meta-analysis.