Understanding the tissue-specific genetic controls of protein levels is essential to uncover mechanisms of post-transcriptional gene regulation. We previously generated a genomic atlas of protein levels in three tissues relevant to neurological disorders (brain, cerebrospinal fluid and plasma) by profiling thousands of proteins from participants with and without Alzheimer’s disease. We now enhanced this work by analyzing more proteins (1,300 versus 1,079) and an almost twofold increase in high-quality imputed genetic variants (8.4 million versus 4.4 million) by using TOPMed reference panel. We identified 38 genomic regions associated with 43 proteins in brain, 150 regions associated with 247 proteins in cerebrospinal fluid, and 95 regions associated with 145 proteins in plasma. Compared to our previous study, this study newly identified 12 loci in brain, 30 loci in cerebrospinal fluid, and 22 loci in plasma. cis-pQTLs were more likely to be tissue shared, but trans-pQTLs tended to be tissue specific. Between 48.0% and 76.6% of pQTLs did not co-localize with expression, splicing, DNA methylation or histone acetylation QTLs. Using Mendelian randomization, we nominated proteins implicated in neurological diseases, including Alzheimer’s disease, Parkinson’s disease and stroke. This first multi-tissue study will be instrumental to map signals from genome-wide association studies onto functional genes, to discover pathways and to identify drug targets for neurological diseases.

Total number of samples: 1,598

Female 867 54.3 %
Male 731 45.7 %

Total number of samples: 1,598

Asian1
Black or African American1
White1,591
NA5

Total number of samples: 1,598

Not Hispanic or Latino
1,186
74.2%
Not Applicable/Not Available
412
25.8%

Total number of samples: 1,598

AD
Control78549.1%
Case64940.6%
Other16110.1%
Unknown30.2%

Total number of samples: 1,598

  • 227 (0.4%)
  • 23151 (9.4%)
  • 2447 (2.9%)
  • 33759 (47.5%)
  • 34510 (31.9%)
  • 4497 (6.1%)
  • NA27 (1.7%)