Imperial College London
Portrait Picture

DrSarahMarzi

Faculty of Medicine, Department of Brain Sciences

Honorary Senior Lecturer
 
 
 
//

Contact

 

s.marzi

 
 
//

Location

 

Burlington DanesHammersmith Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Janecka:2017:10.1038/srep41204,
author = {Janecka, M and Marzi, SJ and Parsons, MJ and Liu, L and Paya-Cano, JL and Smith, RG and Fernandes, C and Schalkwyk, LC},
doi = {10.1038/srep41204},
journal = {Scientific Reports},
pages = {1--11},
title = {Genetic polymorphisms and their association with brain and behavioural measures in heterogeneous stock mice},
url = {http://dx.doi.org/10.1038/srep41204},
volume = {7},
year = {2017}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Although the search for quantitative trait loci for behaviour remains a considerable challenge, the complicated genetic architecture of quantitative traits is beginning to be understood. The current project utilised heterogeneous stock (HS) male mice (n = 580) to investigate the genetic basis for brain weights, activity, anxiety and cognitive phenotypes. We identified 126 single nucleotide polymorphisms (SNPs) in genes involved in regulation of neurotransmitter systems, nerve growth/death and gene expression, and subsequently investigated their associations with changes in behaviour and/or brain weights in our sample. We found significant associations between four SNP-phenotype pairs, after controlling for multiple testing. Specificity protein 2 (Sp2, rs3708840), tryptophan hydroxylase 1 (Tph1, rs262731280) and serotonin receptor 3A (Htr3a, rs50670893) were associated with activity/anxiety behaviours, and microtubule-associated protein 2 (Map2, rs13475902) was associated with cognitive performance. All these genes except for Tph1 were expressed in the brain above the array median, and remained significantly associated with relevant behaviours after controlling for the family structure. Additionally, we found evidence for a correlation between Htr3a expression and activity. We discuss our findings in the light of the advantages and limitations of currently available mouse genetic tools, suggesting further directions for association studies in rodents.
AU  - Janecka,M
AU  - Marzi,SJ
AU  - Parsons,MJ
AU  - Liu,L
AU  - Paya-Cano,JL
AU  - Smith,RG
AU  - Fernandes,C
AU  - Schalkwyk,LC
DO  - 10.1038/srep41204
EP  - 11
PY  - 2017///
SN  - 2045-2322
SP  - 1
TI  - Genetic polymorphisms and their association with brain and behavioural measures in heterogeneous stock mice
T2  - Scientific Reports
UR  - http://dx.doi.org/10.1038/srep41204
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000393297900001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/srep41204
UR  - http://hdl.handle.net/10044/1/77075
VL  - 7
ER  -
Download