GWAS links TMEMB106B and CPOX to AD biomarkers

Virtual group photo of LIGA team members who are co-authors in the new study.
(Clockwise from top left: V. Dobricic, O. Ohlei, L. Bertram, C. Lill)

This month, a new study led by the LIGA team was published showing that the genes TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels. To arrive at this conclusion, we performed several genome-wide association studies (GWAS) using DNA and cerebrospinal fluid (CSF) samples from the EMIF-AD Multimodal Biomarker Discovery study for discovery, and the Alzheimer’s Disease Neuroimaging Initiative study for validation analyses. In these analyses, we identified and validated several novel associations (between TMEM106B and CSF levels of NfL and CPOX and YKL-40) and confirmed previous work suggesting that YKL-40 levels are associated with DNA variants in CHI3L1. These exciting new data shed light on the sequence of events regarding the initiation and progression of neuropathological processes relevant in AD. The study was published in the highly reputed journal Alzheimer’s and Dementia and featured in a press release from University of Luebeck (in German).