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Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

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Study Profile of the Iwate PGS Assessment and Risk Communication (PARC) Study.

Akiko Yoshida^1,2, Tomoharu Tokutomi^1,2, Nobuhiro Suzumori^1,2

¹Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University.

Journal of Epidemiology

|September 7, 2025

Summary

This study assessed polygenic scores (PGS) for ischemic stroke risk in Japanese workers. Reporting PGS risk aims to understand its impact on health behaviors, with results expected in future follow-ups.

Keywords:

genome cohort ischemic stroke polygenic score risk communication

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Area of Science:

Genetics and Public Health
Preventive Medicine
Risk Communication

Background:

The impact of polygenic scores (PGS) on health behavior modification remains unclear.
The Iwate PGS Assessment and Risk Communication Study investigates how reporting PGS-based ischemic stroke risk influences health behaviors.

Purpose of the Study:

To examine the effects of communicating polygenic score (PGS)-based ischemic stroke risk on health behaviors.
To establish a foundation for integrating PGS into personalized preventive medicine strategies.

Main Methods:

Recruited over 2,000 workers from health checkups in Iwate Prefecture.
Collected health data, biospecimens, and questionnaires for genetic analysis and PGS calculation using an East Asian model.
Randomly assigned participants to receive their PGS risk report (intervention) or not, with follow-up surveys planned.

Main Results:

Achieved a 58.0% consent rate, enrolling 2,083 participants (80.7% male).
Participant age distribution: 18-29 (25.2%), 30s (25.3%), 40s (24.7%).
Prevalence of ischemic stroke risk: 9.7% at reference risk (1.0), 2.7% with 2.1-3.4 fold risk, 44.7% with 1.4-1.9 fold risk, and 42.9% with <1.0 fold risk.

Conclusions:

Successfully collected health data and biospecimens from over 2,000 individuals.
Disclosed polygenic score (PGS)-based ischemic stroke risk, with behavioral impact evaluation ongoing until 2030.
This study represents Japan's first large-scale PGS risk communication initiative, offering insights for personalized preventive medicine.