Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene

N Pervjakova; V Kukushkina; T Haller; S Kasela; A Joensuu; K Kristiansson; T Annilo; M Perola; V Salomaa; P Jousilahti; A Metspalu; R Mägi

doi:10.2217/bmm-2018-0020

Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene

Biomark Med. 2018 May;12(5):439-446. doi: 10.2217/bmm-2018-0020. Epub 2018 Mar 14.

Authors

N Pervjakova^{1

2

3}, V Kukushkina^{1

2}, T Haller¹, S Kasela¹, A Joensuu^{4

5}, K Kristiansson^{4

5}, T Annilo^{1

2}, M Perola^{1

4

5}, V Salomaa⁴, P Jousilahti⁴, A Metspalu^{1

2}, R Mägi¹

Affiliations

¹ Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu 51010, Estonia.
² Department of Biotechnology, Institute of Molecular & Cell Biology, University of Tartu, Tartu 51010, Estonia.
³ Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, UK.
⁴ National Institute for Health & Welfare (THL), Department of Public Health Solutions, Helsinki, Finland.
⁵ Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.

PMID: 29536759
DOI: 10.2217/bmm-2018-0020

Abstract

Aim: The aim of the study was to explore the parent-of-origin effects (POEs) on a range of human nuclear magnetic resonance metabolites.

Materials & methods: We search for POEs in 14,815 unrelated individuals from Estonian and Finnish cohorts using POE method for the genotype data imputed with 1000 G reference panel and 82 nuclear magnetic resonance metabolites.

Results: Meta-analysis revealed the evidence of POE for the variant rs1412727 in PTPRD gene for the metabolite: triglycerides in medium very low-density lipoprotein. No POEs were detected for genetic variants that were previously known to have main effect on circulating metabolites.

Conclusion: We demonstrated possibility to detect POEs for human metabolites, but the POEs are weak, and therefore it is hard to detect those using currently available sample sizes.

Keywords: EGCUT; FINRISK; NMR metabolites; PTPRD; VLDL; parent-of-origin effects.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Genomics*
Genotype
Humans
Lipoproteins, VLDL / metabolism*
Magnetic Resonance Spectroscopy
Male
Metabolomics*
Receptor-Like Protein Tyrosine Phosphatases, Class 2 / genetics*
Triglycerides / metabolism*

Substances

Lipoproteins, VLDL
Triglycerides
very low density lipoprotein triglyceride
PTPRD protein, human
Receptor-Like Protein Tyrosine Phosphatases, Class 2