Research summary
Contributions span large-scale human genetic variation cataloguing and cohort-based cardiovascular and neurodegenerative genetics. The 1000 Genomes Project completion paper reconstructed 2,504 individuals from 26 populations by combining low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping, characterizing over 88 million variants (84.7 million SNPs, 3.6 million short indels, 60,000 structural variants) all phased onto high-quality haplotypes [1]. PCSK9 sequence variants associated with reduced LDL cholesterol were related to incident coronary heart disease over a 15-year interval in the Atherosclerosis Risk in Communities (ARIC) study, providing genetic evidence that lifelong reduction in LDL cholesterol lowers CHD incidence and motivating subsequent PCSK9-inhibitor drug development [2]. A two-stage GWAS of Alzheimer's disease and related dementias combined 111,326 clinically diagnosed or proxy cases with 677,663 controls to identify 75 risk loci (42 new at the time of analysis); pathway enrichment confirmed amyloid/tau pathway involvement, highlighted microglia, and prioritized 31 candidate genes including TNF-alpha pathway components, suggesting new associated processes [4]. A consensus statement on "vulnerable plaque" articulated that rupture-prone plaques are not the only vulnerable lesions, that all advanced atherosclerotic plaques carry risk, and that current screening and diagnostic methods are insufficient to identify victims of cardiovascular sudden death before the event, framing future research priorities in cardiovascular medicine [3] (also republished in a parallel deposit as [5]). The methodological pattern is the use of multi-cohort sequencing and genotyping data combined with GWAS meta-analysis and Mendelian-randomization-style genotype-outcome analyses to relate germline variation to coronary and neurodegenerative endpoints.
Recent publications
- A global reference for human genetic variationDOI
- Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver diseaseDOI
- Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart DiseaseDOI
- From Vulnerable Plaque to Vulnerable PatientDOI
- New insights into the genetic etiology of Alzheimer鈥檚 disease and related dementiasDOI
- From Vulnerable Plaque to Vulnerable PatientDOI
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskDOI
- Large-scale association analysis identifies 13 new susceptibility loci for coronary artery diseaseDOI
- Twelve type 2 diabetes susceptibility loci identified through large-scale association analysisDOI
- Patterns and rates of exonic de novo mutations in autism spectrum disordersDOI
The lab page does not clearly state student acceptance status. Email the professor directly to confirm.
How to apply
Email Eric Boerwinkle 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/0000-0001-8813-0544
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, Kumamoto University faculty directory). Last refreshed 2026-05. Report incorrect information.