By Anders Ulrik Eliasen
Summary
Chair persons: Elena Papaleo and Morten Nielsen
Opponent: Marie Standl
Opponent: Anders Albrechtsen
ABSTRACT
Despite years of research, scientists have yet to fully unravel the intricate relationship between variations in the genome and trait variation. Genome- wide association studies (GWAS) have successfully identified thousands of susceptibility genes for human traits. However, these genes do not explain the complete trait heritability, indicating that there is still important unidenti- fied genetic variation. A controversial phenomenon within GWAS is genetic interactions. Genetic interactions have proven to be very elusive and diffi- cult to identify, why it remains mostly speculation as to whether they have a place in the genetic architecture of human traits.
This thesis presents research conducted within genetic association studies, specifically focusing on identifying and understanding genetic interactions in childhood asthma. The structure of the thesis includes six chapters cov- ering introduction, research hypothesis and aims, material and methods, re- sults, discussion, and conclusion. Throughout the thesis, I will use the plural personal pronoun “we” when discussing scientific papers and the underlying methodology, as this work has been a collaborative effort. The term “I” will be used when describing my own views.
The primary results of the thesis consist of two scientific papers, which are listed below. The chapters before the results describe a selection of the un- derlying theory, applied statistical methods, and data used for the analysis. The author contributions and title for the two papers are listed below:
Paper I: Tarunveer S. Ahluwalia* Anders U. Eliasen*, Astrid Sevel- sted, Casper-Emil T. Pedersen, Jakob Stokholm, Bo Chawes, Jette Bork- Jensen, Niels Grarup, Oluf Pedersen, Torben Hansen , Allan Linneberg, Amitabh Sharma, Scott T. Weiss, Michael D. Evans, Daniel J. Jackson, Andreanne Morin, Karen A. Krogfelt, Susanne Schjørring, Preben B. Mortensen, David M. Hougaard, Jonas Bybjerg-Grauholm, Marie Bækvad- Hansen, Ole Mors, Merete Nordentoft, Anders D. Børglum, Thomas Werge, Esben Agerbo, James E. Gern, Robert F. Lemanske Jr., Carole Ober, Anders G. Pedersen, Hans Bisgaard, Klaus Bønnelykke
*these authors contributed equally
FUT2-ABO epistasis increases the risk of ealy childhood asthma and Streptococcus pneumonia infections
Nature communications (2020)
Paper II: Anders U. Eliasen, Casper Emil T. Pedersen, Morten A. Ras- mussen, Ni Wang, Matteo Soverini, Amelie Fritz, Jakob Stokholm, Bo L. Chawes, Andreanna Morin, Jette Bork-Jensen, Niels Grarup, Oluf Ped- ersen, Torben Hansen, Allan Linneberg, Preben B. Mortensen, David M. Hougaard, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Ole Mors, Merete Nordentoft, Anders D. Børglum, Thomas Werge, Esben Agerbo, Cilla Söderhall, Matthew C. Altman, Anna H. Thysen, Susanne Brix, James E. Gern, Carole Ober, Tarunveer S. Ahluwalia, Hans Bisgaard, Anders G. Pedersen*, Klaus Bønnelykke*
*these authors contributed equally
Genome-wide study of early childhood asthma with severe exacer- bations identifies epistasis between CDHR3 and GSDMB Submitted (2021)
