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Brotman SM, Raulerson CK, Vadlamudi S, et al. Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. Am J Hum Genet. 2022;109(1):66-80doi: 10.1016/j.ajhg.2021.11.019.
Brotman, S. M., Raulerson, C. K., Vadlamudi, S., Currin, K. W., Shen, Q., Parsons, V. A., Iyengar, A. K., Roman, T. S., Furey, T. S., Kuusisto, J., Collins, F. S., Boehnke, M., Laakso, M., Pajukanta, P., & Mohlke, K. L. (2022). Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. American journal of human genetics, 109(1), 66-80. https://doi.org/10.1016/j.ajhg.2021.11.019
Brotman, Sarah M, et al. "Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits." American journal of human genetics vol. 109,1 (2022): 66-80. doi: https://doi.org/10.1016/j.ajhg.2021.11.019
Brotman SM, Raulerson CK, Vadlamudi S, Currin KW, Shen Q, Parsons VA, Iyengar AK, Roman TS, Furey TS, Kuusisto J, Collins FS, Boehnke M, Laakso M, Pajukanta P, Mohlke KL. Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. Am J Hum Genet. 2022 Jan 06;109(1):66-80. doi: 10.1016/j.ajhg.2021.11.019. PMID: 34995504.
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Am J Hum Genet. 2022 Jan 06;109(1):66-80. doi: 10.1016/j.ajhg.2021.11.019.

Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.

American journal of human genetics

Sarah M Brotman, Chelsea K Raulerson, Swarooparani Vadlamudi, Kevin W Currin, Qiujin Shen, Victoria A Parsons, Apoorva K Iyengar, Tamara S Roman, Terrence S Furey, Johanna Kuusisto, Francis S Collins, Michael Boehnke, Markku Laakso, Päivi Pajukanta, Karen L Mohlke

Affiliations

  1. Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
  2. Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
  3. Institute of Clinical Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio 70210, Finland.
  4. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  5. Department of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
  6. Institute for Precision Health, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
  7. Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: [email protected].

PMID: 34995504 DOI: 10.1016/j.ajhg.2021.11.019

Abstract

Alternate splicing events can create isoforms that alter gene function, and genetic variants associated with alternate gene isoforms may reveal molecular mechanisms of disease. We used subcutaneous adipose tissue of 426 Finnish men from the METSIM study and identified splice junction quantitative trait loci (sQTLs) for 6,077 splice junctions (FDR < 1%). In the same individuals, we detected expression QTLs (eQTLs) for 59,443 exons and 15,397 genes (FDR < 1%). We identified 595 genes with an sQTL and exon eQTL but no gene eQTL, which could indicate potential isoform differences. Of the significant sQTL signals, 2,114 (39.8%) included at least one proxy variant (linkage disequilibrium r

Copyright © 2021 American Society of Human Genetics. All rights reserved.

Keywords: GWAS; NR1H3; adipocyte; adipose tissue; colocalization; eQTL; exon eQTL; quantitative trait locus; sQTL; splice junction

Conflict of interest statement

Declaration of interests The authors declare no competing interests.

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