NDLI: A genomewide perspective of genetic variation in human metabolism

Content Provider	PubMed Central
Author	Illig, Thomas Gieger, Christian Zhai, Guangju Werner, Römisch-margl Rui, Wang-sattler Prehn, Cornelia Altmaier, Elisabeth Gabi, Kastenmüller Kato, Bernet S. Mewes, Hans-werner Meitinger, Thomas Angelis, Martin Hrabé De Kronenberg, Florian Soranzo, Nicole Wichmann, H. Erich Spector, Tim D. Adamski, Jerzy Suhre, Karsten
Abstract	Serum metabolite concentrations provide a direct readout of biological processes in the human body, and are associated with disorders such as cardiovascular and metabolic diseases. Here we present a genome-wide association study with 163 metabolic traits using 1809 participants from the KORA population, followed up in the TwinsUK cohort with 422 participants. In eight out of nine replicated loci (FADS1, ELOVL2, ACADS, ACADM, ACADL, SPTLC3, ETFDH, SLC16A9) the genetic variant is located in or near enzyme or solute carrier coding genes, where the associating metabolic traits match the proteins’ function. Many of these loci are located in rate limiting steps of important enzymatic reactions. Use of metabolite concentration ratios as proxies for enzymatic reaction rates reduces the variance and yields robust statistical associations with p-values between 3×10−24 and 6.5×10−179. These loci explained 5.6% to 36.3% of the observed variance. For several loci, associations with clinically relevant parameters have previously been reported.
Related Links	http://dx.doi.org/10.1038/ng.507
Ending Page	141
Page Count	5
Starting Page	137
File Format	PDF
ISSN	10614036
e-ISSN	15461718
Journal	Nature genetics
Issue Number	2
Volume Number	42
Language	English
Publisher Date	2010-02-01
Access Restriction	Open
Subject Keyword	Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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