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Parent-of-Origin Effects and Allelic Imbalance in Metabolism - Across the Life Course: Implications for Metabolic Traits, Disease Risk, and Gene Regulation

Andersson, Jonas LU orcid (2026) In Lund University, Faculty of Medicine Doctoral Dissertation Series
Abstract
Parent-of-origin effects (POEs), whereby the phenotypic impact of a genetic variant depends on parental inheritance, represent a mechanism through which genetic and environmental factors interact in complex traits such as metabolic disorders and cancer. As parental contributions differ, POEs can influence both early-life development and adult metabolic function, with parental imbalances observed in traits such as type 2 diabetes (T2D), including increased maternal transmission. These effects may arise through genomic imprinting or more subtle parental expression biases. Allelic expression imbalance (AEI) analyses can identify such effects by detecting parent-specific differences in gene expression, providing insight into underlying genetic... (More)
Parent-of-origin effects (POEs), whereby the phenotypic impact of a genetic variant depends on parental inheritance, represent a mechanism through which genetic and environmental factors interact in complex traits such as metabolic disorders and cancer. As parental contributions differ, POEs can influence both early-life development and adult metabolic function, with parental imbalances observed in traits such as type 2 diabetes (T2D), including increased maternal transmission. These effects may arise through genomic imprinting or more subtle parental expression biases. Allelic expression imbalance (AEI) analyses can identify such effects by detecting parent-specific differences in gene expression, providing insight into underlying genetic and epigenetic regulation. Allelic imbalance also plays a key role in cancer, where somatic copy number variations alter gene dosage and regulatory elements, leading to tumor-associated changes in gene expression. The aim of this thesis was to identify and characterize genes exhibiting POEs influencing metabolic traits and T2D risk, particularly insulin secretion, and to investigate allelic imbalance in cancer to better understand gene regulatory mechanisms in disease. (Less)
Please use this url to cite or link to this publication:
author
supervisor
opponent
  • Professor Kockum, Ingrid, Department of Clinical Neuroscience, Karolinska Institutet
organization
publishing date
type
Thesis
publication status
published
subject
keywords
parent-of-origin effects, POE, Allelic imbalance in expression, AEI, Type 2 diabetes (T2D), T2D, GLP1R, TSHZ3, KCNQ1, RHOBTB3, KLF14, MOB2
in
Lund University, Faculty of Medicine Doctoral Dissertation Series
issue
2026:105
pages
74 pages
publisher
Lund University, Faculty of Medicine
defense location
Agardh föreläsningssal, CRC, Jan Waldenströms gata 35, Skånes Universitetssjukhus i Malmö. Join by Zoom: https://lu-se.zoom.us/j/64943060535
defense date
1026-09-03 13:00:00
ISSN
1652-8220
ISBN
978-91-8021-903-7
language
English
LU publication?
yes
id
dae663cb-0fba-4724-b2ae-67d982434ba8
date added to LUP
2026-08-15 10:14:55
date last changed
2026-08-18 10:27:52
@phdthesis{dae663cb-0fba-4724-b2ae-67d982434ba8,
  abstract     = {{Parent-of-origin effects (POEs), whereby the phenotypic impact of a genetic variant depends on parental inheritance, represent a mechanism through which genetic and environmental factors interact in complex traits such as metabolic disorders and cancer. As parental contributions differ, POEs can influence both early-life development and adult metabolic function, with parental imbalances observed in traits such as type 2 diabetes (T2D), including increased maternal transmission. These effects may arise through genomic imprinting or more subtle parental expression biases. Allelic expression imbalance (AEI) analyses can identify such effects by detecting parent-specific differences in gene expression, providing insight into underlying genetic and epigenetic regulation. Allelic imbalance also plays a key role in cancer, where somatic copy number variations alter gene dosage and regulatory elements, leading to tumor-associated changes in gene expression. The aim of this thesis was to identify and characterize genes exhibiting POEs influencing metabolic traits and T2D risk, particularly insulin secretion, and to investigate allelic imbalance in cancer to better understand gene regulatory mechanisms in disease.}},
  author       = {{Andersson, Jonas}},
  isbn         = {{978-91-8021-903-7}},
  issn         = {{1652-8220}},
  keywords     = {{parent-of-origin effects; POE; Allelic imbalance in expression; AEI; Type 2 diabetes (T2D); T2D; GLP1R; TSHZ3; KCNQ1; RHOBTB3; KLF14; MOB2}},
  language     = {{eng}},
  number       = {{2026:105}},
  publisher    = {{Lund University, Faculty of Medicine}},
  school       = {{Lund University}},
  series       = {{Lund University, Faculty of Medicine Doctoral Dissertation Series}},
  title        = {{Parent-of-Origin Effects and Allelic Imbalance in Metabolism - Across the Life Course: Implications for Metabolic Traits, Disease Risk, and Gene Regulation}},
  url          = {{https://lup.lub.lu.se/search/files/258107641/Jonas_andersson_digital_kappa_260814.pdf}},
  year         = {{2026}},
}