Research summary
Contributions span neuroimaging reference data and large genome-wide association studies of complex traits. The International Consortium for Brain Mapping (ICBM) constructed a four-dimensional probabilistic brain atlas and reference system, assembling demographic, clinical, behavioural, imaging, and DNA data on 7,000 subjects aged 18-90, including 342 mono- and dizygotic twins, with post-mortem tissue used to derive probabilistic distributions [1]. A genome-wide association meta-analysis of attention deficit/hyperactivity disorder pooled 20,183 diagnosed individuals and 35,191 controls and reported 12 independent loci surpassing genome-wide significance; associations were enriched in evolutionarily constrained regions, in loss-of-function-intolerant genes, and around brain-expressed regulatory marks, providing the first robust common variants for ADHD [2]. A GWAS of type 2 diabetes interrogated ~16 million variants in 62,892 cases and 596,424 controls of European ancestry, identifying 139 common and 4 rare T2D-associated variants, 42 of which (39 common and 3 rare) were independent of known loci; integration with blood gene expression (n = 14,115 and 2,765) implicated 33 putative functional genes, including 3 already targeted by approved drugs, and additional integration with DNA methylation (n = 1,980) and epigenomic annotation highlighted CAMK1D, TP53INP1, and ATP5G1 as plausible functional candidates [3]. The unifying methodological thread is large-cohort multimodal data integration: probabilistic anatomical atlasing in [1] and consortium-scale GWAS combined with transcriptomic, methylomic, and epigenomic data in [2] and [3], with consistent attention to functional interpretation of the implicated loci.
Recent publications
- Integrative approaches for large-scale transcriptome-wide association studiesDOI
- A probabilistic atlas and reference system for the human brain: International Consortium for Brain Mapping (ICBM)DOI
- Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorderDOI
- Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol useDOI
- Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expressionDOI
- Large-scale association analyses identify host factors influencing human gut microbiome compositionDOI
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traitsDOI
- A mega-analysis of genome-wide association studies for major depressive disorderDOI
- Classical twin studies and beyondDOI
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetesDOI
The lab page does not clearly state student acceptance status. Email the professor directly to confirm.
How to apply
Email Dorret I. Boomsma 6-12 months before your application deadline. Read several recent papers and reference specific work in your message. Use our how to email a Japanese professor guide for the proven email structure.
For applications via MEXT scholarship: see our MEXT 2027 complete guide and university-specific University Recommendation track.
External profiles
- ORCID: https://orcid.org/0000-0002-7099-7972
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, Tohoku University faculty directory). Last refreshed 2026-05. Report incorrect information.