A Genome-Wide Metabolic QTL Analysis in Europeans Implicates Two Loci Shaped by Recent Positive Selection

作者: George Nicholson , Mattias Rantalainen , Jia V Li , Anthony D Maher , Daniel Malmodin

DOI: 10.1371/JOURNAL.PGEN.1002270

关键词:

摘要: We have performed a metabolite quantitative trait locus (mQTL) study of the 1H nuclear magnetic resonance spectroscopy (1H NMR) metabolome in humans, building on recent targeted knowledge genetic drivers metabolic regulation. Urine and plasma samples were collected from two cohorts individuals European descent, with one cohort comprised female twins donating longitudinally. Sample concentrations quantified by NMR tested for association genome-wide single-nucleotide polymorphisms (SNPs). Four metabolites' exhibited significant, replicable SNP variation (8.6×10−11

参考文章(74)
MCCL Neale, Lon R Cardon, None, Methodology for Genetic Studies of Twins and Families ,(1992)
J K Nicholson, M J Buckingham, P J Sadler, High resolution 1H n.m.r. studies of vertebrate blood and plasma. Biochemical Journal. ,vol. 211, pp. 605- 615 ,(1983) , 10.1042/BJ2110605
J K Nicholson, M P O'Flynn, P J Sadler, A F Macleod, S M Juul, P H Sönksen, Proton-nuclear-magnetic-resonance studies of serum, plasma and urine from fasting normal and diabetic subjects. Biochemical Journal. ,vol. 217, pp. 365- 375 ,(1984) , 10.1042/BJ2170365
Fabio Garofolo, Bioanalytical Method Validation John Wiley & Sons, Inc.. pp. 105- 138 ,(2004) , 10.1002/0471463728.CH8
Iain M. Johnstone, Bernard W. Silverman, Empirical Bayes selection of wavelet thresholds Annals of Statistics. ,vol. 33, pp. 1700- 1752 ,(2005) , 10.1214/009053605000000345
Alexandra C. Nica, Leopold Parts, Daniel Glass, James Nisbet, Amy Barrett, Magdalena Sekowska, Mary Travers, Simon Potter, Elin Grundberg, Kerrin Small, Åsa K. Hedman, Veronique Bataille, Jordana Tzenova Bell, Gabriela Surdulescu, Antigone S. Dimas, Catherine Ingle, Frank O. Nestle, Paola di Meglio, Josine L. Min, Alicja Wilk, Christopher J. Hammond, Neelam Hassanali, Tsun-Po Yang, Stephen B. Montgomery, Steve O'Rahilly, Cecilia M. Lindgren, Krina T. Zondervan, Nicole Soranzo, Inês Barroso, Richard Durbin, Kourosh Ahmadi, Panos Deloukas, Mark I. McCarthy, Emmanouil T. Dermitzakis, Timothy D. Spector, , The architecture of gene regulatory variation across multiple human tissues: the MuTHER study PLOS Genetics. ,vol. 7, ,(2011) , 10.1371/JOURNAL.PGEN.1002003
Karsten Suhre, Christa Meisinger, Angela Döring, Elisabeth Altmaier, Petra Belcredi, Christian Gieger, David Chang, Michael V. Milburn, Walter E. Gall, Klaus M. Weinberger, Hans-Werner Mewes, Martin Hrabé de Angelis, H.-Erich Wichmann, Florian Kronenberg, Jerzy Adamski, Thomas Illig, Metabolic footprint of diabetes: a multiplatform metabolomics study in an epidemiological setting. PLOS ONE. ,vol. 5, ,(2010) , 10.1371/JOURNAL.PONE.0013953
Peter M. Visscher, Beben Benyamin, Ian White, The use of linear mixed models to estimate variance components from data on twin pairs by maximum likelihood. Twin Research. ,vol. 7, pp. 670- 674 ,(2004) , 10.1375/1369052042663742