Description

Understanding how protein, metabolites and lipid levels are correlated to gene variants can help elucidate how variants can impact regulation pathways and disease pathology. Most quantitative trait loci (QTL) studies have been performed using mRNA levels (eQTL) that combined with colocalization and Mendelian Randomization approaches have been instrumental to identify functional genes for complex traits. There are very few protein quantitative trait locus (pQTL) and metabolite quantitative trait loci (MQTL) studies, but those  have traditionally been conducted in blood, urine, plasma. This study examines pQTL and MQTL in  a very large cerebral spinal fluid (CSF) and brain sample size, leading to the largest and most complete pQTL and MQTL atlas in brain and CSF.

Principal Investigators

  • Carlos Cruchaga — Washington University in St. Louis

Funding Sources

The work in Large scale CSF proteogenomic atlas (ng00130) was supported by grants from the National Institutes of Health (R01AG044546 (CC), P01AG003991 (CC, JCM), RF1AG053303 (CC), RF1AG058501 (CC), U01AG058922 (CC), RF1AG074007 (YJS), R00AG062723 (LI), P30 AG066515 (TWC, MDG), the Chan Zuckerberg Initiative (CZI), the Michael J. Fox Foundation (LI, CC), the Department of Defense (LI- W81XWH2010849), the Alzheimer’s Association Zenith Fellows Award (ZEN-22-848604, awarded to CC), and the Bright Focus Foundation (A2021033S, LI). The work in Large scale genetics study on CSF and brain metabolite levels (ng00131) was supported by grants from the National Institutes of Health (R01AG044546 (CC), P01AG003991(CC, JCM), RF1AG053303 (CC), RF1AG058501 (CC), U01AG058922 (CC), RF1AG074007 (YJS)), the Chan Zuckerberg Initiative (CZI), the Michael J. Fox Foundation (LI, CC), the Department of Defense (LI- W81XWH2010849), the Alzheimer’s Association Zenith Fellows Award (ZEN-22-848604, awarded to CC), and an Anonymous foundation. The recruitment and clinical characterization of research participants at Washington University were supported by NIH P30AG066444 (JCM), P01AG03991(JCM), and P01AG026276(JCM).