Expressive

rs1126642 - GFAP

Magnitude 2.0 · 2 studies on file

Reported associations

  • Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities. - Journal of human genetics (2026) · Asanomi Y, Mitsumori R, Yamakawa A, Morizono T, Shigemizu D, Niida S, Sakurai T, Ozaki K · PubMed 41554961

    White matter hyperintensities (WMH) are common findings on brain magnetic resonance imaging (MRI) in older adults and are associated with an increased risk of dementia and stroke. Although large-scale European genome-wide association studies (GWAS) have identified more than 20 loci associated with WMH, the genetic architecture of WMH in Asian populations has not been fully elucidated. Here, we conducted a GWAS comprising 1001 Japanese individuals from the National Center for Geriatrics and Gerontology (NCGG) Biobank, followed by a meta-analysis with GWAS data from 9479 individuals in the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD), identifying three novel loci significantly associated with WMH volume (P < 5 × 10 ). A subsequent trans-ethnic meta-analys

  • Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease - Unknown journal (n.d.) · Unknown authors · PubMed 37069360

    ABSTRACT: Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population

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