Publication
Population-specific putative causal variants shape quantitative traits.
Koyama S, Liu X, Koike Y, et al.
Nature Genetics. 2024 Oct;56:2027–2035. doi: 10.1038/s41588-024-01913-5.
PMID: 39363016
Download Summary Stats by Phenotype
Activated partial thromboplastin time | Alanine transaminase | Albumin | Albumine globulin ratio | Alkaline phosphatase | Aspartate transaminase | Basophil count | Blood sugar | Blood urea nitrogen | Body mass index | C reactive protein | Chloride | Creatinine kinase | Diastolic blood pressure | E/A ratio | Ejection Fraction | Eosinophil count | Estimated glomerular filtration ratio | Fibrinogen | Fractional shortening | Gamma glutamyl transpeptidase | High density lipoprotein cholesterol | Hematocrit | Hemoglobin | Hemoglobin A1c | Interventricular septum | Lactate dehydrogenase | Low-density lipoprotein cholesterol | Left ventricular diastolic dimension | Left ventricular mass | Left ventricular mass index | Left ventricular systolic dimension | Lymphocyte count | Magnesium | Mean arterial pressure | Mean corpuscular hemoglobin | Mean corpuscular hemoglobin concentration | Mean corpuscular volume | Monocyte count | Neutrophil | Non albmin protein | Phosphate | Platelet count | Posterior wall thickness | Potassium | Prothrombin time | Pulse pressure | Red blood cell count | Relative wall thickness | Reticulocite count | Segment count | Serum calcium | Serum creatinine | Sodium | Standing height | Systolic blood pressure | Total billirubin | Total cholesterol | Total protein | Triglyceride | Uric acid | White blood cell count | Zinc sulfate turbidity test
Experiment summary
This study combined ~260,000 Japanese participants, a Japanese-specific imputation reference panel, and statistical fine-mapping to map genetic associations across 63 traits, identifying 4,423 significant loci (601 novel) and 9,406 putatively causal variants, including population-specific coding and noncoding signals.