Table 1 Baseline characteristics and genotyping information of all individuals included in the meta-analysis.
From: Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
GCKD | AugUR | CHRIS | |
|---|---|---|---|
Na | 4692 | 2118 | 9320 |
Sex (female) | 1862 (39.7%) | 1112 (52.5%) | 5143 (55.2%) |
Ageb | 60.2 ± 11.9 | 78.3 ± 5.0 | 45.8 ± 16.3 |
Current Smoker | 746 (15.9%) | 112 (5.3%) | 1632 (17.5%) |
Leukocyte count (103/µl)b | NA | 6.5 ± 2.0 | 6.2 ± 1.8 |
Erythrocyte count (106/µl)b | NA | 4.5 ± 0.4 | 4.9 ± 0.5 |
Platelet count (103/µl)b | NA | 240 ± 62 | 254 ± 57 |
Mean mtDNA-CNb | 107.3 ± 36.5 | 150.9 ± 43.9 | 143.5 ± 51.1 |
DNA source | Whole blood | Whole blood | Whole blood |
DNA extraction | Automated magnetic beads-based method | Manual salting out method | Automated magnetic beads-based method |
mtDNA-CN measurement | qPCR | qPCR | qPCR |
Genotyping array | Illumina Infinium® OMNI 2.5Exome | Illumina Infinium® Global Screening Array (v1/v3) | Illumina Infinium® Human OmniExpressExome, Omni 2.5Exome |
Genotype quality control (exclusion criteria) | HWE p < 1 × 10–5; sample call rate < 0.97, SNP call rate prior to imputation < 0.96 | HWE p < 1 × 10–8; call rate < 0.95; monomorphic variants | HWE p < 1 × 10–6; call rate < 0.98; monomorphic variants |
Imputation | HRC | HRC | HRC |
