Please use this identifier to cite or link to this item: https://doi.org/10.1093/hmg/ddz246
Title: Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases
Authors: Chai, Jin-Fang 
Raichur, Suryaprakash
Khor, Ing Wei 
Torta, Federico
Chew, Wee Siong 
Herr, Deron Raymond 
Ching, Jianhong 
Kovalik, Jean-Paul
Khoo, Chin Meng 
Wenk, Markus R 
Tai, E Shyong 
Sim, Xueling 
Keywords: Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Genetics & Heredity
GENOME-WIDE ASSOCIATION
GENETIC-VARIATION
COMMON VARIANTS
ABCA7
LOCI
CHCHD2
BETA
RISK
METAANALYSIS
CHOLESTEROL
Issue Date: 15-Jan-2020
Publisher: OXFORD UNIV PRESS
Citation: Chai, Jin-Fang, Raichur, Suryaprakash, Khor, Ing Wei, Torta, Federico, Chew, Wee Siong, Herr, Deron Raymond, Ching, Jianhong, Kovalik, Jean-Paul, Khoo, Chin Meng, Wenk, Markus R, Tai, E Shyong, Sim, Xueling (2020-01-15). Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases. HUMAN MOLECULAR GENETICS 29 (2) : 189-201. ScholarBank@NUS Repository. https://doi.org/10.1093/hmg/ddz246
Abstract: © 2019 The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. Metabolites are small intermediate products of cellular metabolism perturbed in a variety of complex disorders. Identifying genetic markers associated with metabolite concentrations could delineate disease-related metabolic pathways in humans. We tested genetic variants for associations with 136 metabolites in 1954 Chinese from Singapore. At a conservative genome-wide threshold (3.7 × 10-10), we detected 1899 variant-metabolite associations at 16 genetic loci. Three loci (ABCA7, A4GALT, GSTM2) represented novel associations with metabolites, with the strongest association observed between ABCA7 and d18:1/24:1 dihexosylceramide. Among 13 replicated loci, we identified six new variants independent of previously reported metabolite or lipid signals. We observed variant-metabolite associations at two loci (ABCA7, CHCHD2) that have been linked to neurodegenerative diseases. At SGPP1 and SPTLC3 loci, genetic variants showed preferential selectivity for sphingolipids with d16 (rather than d18) sphingosine backbone, including sphingosine-1-phosphate (S1P). Our results provide new genetic associations for metabolites and highlight the role of metabolites as intermediate modulators in disease metabolic pathways.
Source Title: HUMAN MOLECULAR GENETICS
URI: https://scholarbank.nus.edu.sg/handle/10635/173272
ISSN: 09646906
14602083
DOI: 10.1093/hmg/ddz246
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