2024/11/14
Kyushu University
Hirosaki University
Iwate Medical University
Kanazawa University
Keio University
National Hospital Organization Matsue Medical Center
Ehime University
Kumamoto University
Tohoku University
RIKEN
Highlights
Cerebral white matter lesions observed on MRI are important findings related to the onset of stroke and dementia, but the genetic factors in Asian populations have not been well understood.
Using brain MRI scans and genomic information from approximately 9,500 participants in the JPSC-AD study, a large-scale dementia cohort study, we investigated genetic regions associated with cerebral white matter lesions.
We demonstrated that a mutation in the *GFAP* gene, which is relatively common in East Asians, is associated with cerebral white matter lesions, and also identified one new, previously unreported region.
Cerebral white matter lesions are common findings on brain MRI scans and are important indicators related to the onset of stroke and dementia. While it has been reported that these lesions are more likely to appear in the presence of lifestyle-related diseases such as hypertension, genetic factors are also known to be involved. Although previous studies have identified genetic factors influencing cerebral white matter lesions, research targeting Asian populations has been limited to small-scale analyses involving only a few hundred individuals.
A collaborative research group—led by Professor Toshiharu Ninomiya of the Department of Hygiene and Public Health, Assistant Professor Yoshihiko Furuta of the Department of Medicine and Clinical Science, and Lecturer Masato Akiyama of the Department of Ocular Pathology and Imaging Science at the Graduate School of Medical Sciences, Kyushu University, and including members from Hirosaki University, Iwate Medical University, Kanazawa University, Keio University, Matsue Medical Center, Ehime University, Kumamoto University, Tohoku University, and the RIKEN Center for Integrative Medical Sciences—conducted a Genome-Wide Association Study (GWAS) using brain MRI scans and genomic data from 9,479 participants in the JPSC-AD study, a large-scale dementia cohort study aimed at achieving a society of health and longevity. The GWAS searched for genetic loci associated with cerebral white matter lesion volume. The results identified a mutation on chromosome 17 in the GFAP gene, which alters the 295th amino acid, as a genetic locus associated with cerebral white matter lesion volume. Furthermore, an integrated analysis with GWAS data from the UK Biobank study revealed that 20 genetic loci were associated with cerebral white matter lesion volume, one of which—a locus on chromosome 6 (in the SLC2A12 gene)—was identified as a novel genetic locus.
The findings of this study were published in the online edition of the international academic journalnpj Genomic Medicineon November 13, 2024, at 7:00 PM (JST).
For the full press release, please see below.