Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

Yuetiva Deming, Jian Xia, Yefei Cai, Jenny Lord, Jorge L. Del-Aguila, Maria Victoria Fernandez, David Carrell, Kathleen Black, John Budde, Shengmei Ma, Benjamin Saef, Bill Howells, Sarah Bertelsen, Matthew Bailey, Perry G. Ridge, David Holtzman, John C. Morris, Kelly Bales, Eve H. Pickering, Jin Moo LeeLaura Heitsch, John Kauwe, Alison Goate, Laura Piccio, Carlos Cruchaga

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17 Scopus citations


Genome-wide association studies of 146 plasma protein levels in 818 individuals revealed 56 genome-wide significant associations (28 novel) with 47 analytes. Loci associated with plasma levels of 39 proteins tested have been previously associated with various complex traits such as heart disease, inflammatory bowel disease, Type 2 diabetes, and multiple sclerosis. These data suggest that these plasma protein levels may constitute informative endophenotypes for these complex traits. We found three potential pleiotropic genes: ABO for plasma SELE and ACE levels, FUT2 for CA19-9 and CEA plasma levels, and APOE for ApoE and CRP levels. We also found multiple independent signals in loci associated with plasma levels of ApoH, CA19-9, FetuinA, IL6r, and LPa. Our study highlights the power of biological traits for genetic studies to identify genetic variants influencing clinically relevant traits, potential pleiotropic effects, and complex disease associations in the same locus.

Original languageEnglish
Article number18092
JournalScientific reports
StatePublished - Jan 4 2016


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