Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis.
Jacob Thompson, Paula K Johnson
✦ AI-curated · Sources linked
In 30 seconds
This PRISMA-guided systematic review and meta-analysis synthesized genetic association studies of corticobasal degeneration (CBD), including 22 studies published between 2001 and 2025. The review assessed MAPT haplotypes, subhaplotypes and SNPs, as well as non-MAPT loci. MAPT architecture showed the most consistent associations: H1 and H1/H1 were associated with increased susceptibility, while H2 was protective. H1c, H1d and H1q also showed significant risk associations; C9orf72, MOBP and KIF13B were associated with CBD risk. The abstract provides no pooled effect sizes.
Key findings
- MAPT H1 and H1/H1 were associated with increased CBD susceptibility, whereas H2 showed a protective association.
- Among MAPT H1 subhaplotypes, H1c, H1d and H1q had significant risk associations.
- C9orf72, MOBP and KIF13B were associated with CBD risk.
- MAPT SNP associations were generally modest, although several variants had small significant protective or risk-related effects.
Why it matters
The synthesis supports MAPT architecture as the most consistent genetic correlate of CBD while identifying associations beyond MAPT. This helps frame CBD susceptibility as genetically heterogeneous and may guide future work on biomarkers and disease mechanisms, including tau-related and glial pathways. The findings describe genetic associations, not established causal mechanisms or clinical prediction tools.
What to keep in mind
The abstract reports substantial heterogeneity within and beyond MAPT and does not provide pooled effect sizes or details of study-level risk of bias, limiting assessment of the magnitude and robustness of individual associations.