CCG repeat in FAM193B promoter doubles Alzheimer's risk in Chinese adults, Nature Neuroscience study finds
anshulkundaje · x · 2026-10-21
A Nature Neuroscience genome-wide structural variant study identifies a regulatory CCG repeat in the FAM193B promoter associated with Alzheimer's disease risk.
- In Chinese cohorts, odds roughly double at 18+ repeats and near-triple at 21+; the Hong Kong cohort (685 AD vs 1,054 controls) reaches genome-wide significance (P=5×10⁻⁸), with consistent signals in mainland and meta-analysis cohorts.
- In Europeans (UK Biobank, 2,674 AD vs 22,996 controls) the signal is weaker, 21% higher odds.
- Typical genetic tests miss such repeats; authors call for more long-read sequencing in Alzheimer's cohorts.
The work suggests structural variants are an underappreciated component of AD's polygenic architecture.
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