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Hum Brain Mapp. 2019 Sep;40(13):3910-3917. doi: 10.1002/hbm.24639. Epub 2019 May 22.

A genome-wide association study-derived polygenic score for interleukin-1β is associated with hippocampal volume in two samples.

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Laboratory of NeuroGenetics, Department of Psychology & Neuroscience, Duke University, Durham, North Carolina.
Cardiothoracic Division, Department of Surgery, Duke University Medical Center, Durham, North Carolina.


Accumulating research suggests that the pro-inflammatory cytokine interleukin-1β (IL-1β) has a modulatory effect on the hippocampus, a brain structure important for learning and memory as well as linked with both psychiatric and neurodegenerative disorders. Here, we used an imaging genetics strategy to test an association between an IL-1β polygenic score and hippocampal volume in two independent samples. Our polygenic score was derived using summary statistics from a recent genome-wide association study of circulating cytokines that included IL-1β (N = 3,309). In the first sample of 512 non-Hispanic Caucasian university students (274 women, mean age 19.78 ± 1.24 years) from the Duke Neurogenetics Study, we identified a significant positive correlation between IL-1β polygenic scores and hippocampal volume. This positive association was successfully replicated in a second sample of 7,960 white British volunteers (4,158 women, mean age 62.63 ± 7.45 years) from the UK Biobank. Our results lend further support in humans, to the link between IL-1β and the structure of the hippocampus.


brain volume; hippocampus; inflammation; interleukin-1β (IL-1 β); polygenic score; single nucleotide polymorphism (SNP); structural MRI

[Available on 2020-09-01]

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