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Nature Research, Scientific Reports, 1(6), 2016

DOI: 10.1038/srep18092

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

Journal article published in 2016 by Yuetiva Deming, Jian Xia, ShengMei Ma, ShengMei, Benjamin Saef, Perry G. Ridge, Earl A. Zimmerman, Stephanie Reeder, Nadira Trncic, Pierre Tariot, Eric M. Reiman, Marwan N. Sabbagh, Sherye A. Sirrel, Javier Villanueva-Meyer, Susan Rountree and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractGenome-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.