Autosomal genetic control of human gene expression does not differ across the sexes

Kassam, Irfahan, Lloyd-Jones, Luke, Holloway, Alexander, Small, Kerrin S., Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Gibson, Greg, Spector, Tim D., Esko, Tonu, Montgomery, Grant W., Powell, Joseph E., Yang, Jian, Visscher, Peter M. and McRae, Allan F. (2016) Autosomal genetic control of human gene expression does not differ across the sexes. Genome Biology, 17 1: 248.1-248.10. doi:10.1186/s13059-016-1111-0

Author Kassam, Irfahan
Lloyd-Jones, Luke
Holloway, Alexander
Small, Kerrin S.
Zeng, Biao
Bakshi, Andrew
Metspalu, Andres
Gibson, Greg
Spector, Tim D.
Esko, Tonu
Montgomery, Grant W.
Powell, Joseph E.
Yang, Jian
Visscher, Peter M.
McRae, Allan F.
Title Autosomal genetic control of human gene expression does not differ across the sexes
Journal name Genome Biology   Check publisher's open access policy
ISSN 1474-760X
Publication date 2016-12-01
Sub-type Article (original research)
DOI 10.1186/s13059-016-1111-0
Open Access Status DOI
Volume 17
Issue 1
Start page 248.1
End page 248.10
Total pages 10
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Subject 1105 Dentistry
1311 Genetics
1307 Cell Biology
Formatted abstract
Background: Despite their nearly identical genomes, males and females differ in risk, incidence, prevalence, severity and age-at-onset of many diseases. Sexual dimorphism is also seen in human autosomal gene expression, and has largely been explored by examining the contribution of genotype-by-sex interactions to variation in gene expression.

Results: In this study, we use data from a mixture of pedigree and unrelated individuals with verified European ancestry to investigate the sex-specific genetic architecture of gene expression measured in whole blood across n=1048 males and n=1005 females by treating gene expression intensities in the sexes as two distinct traits and estimating the genetic correlation (r G) between them. These correlations measure the similarity of the combined additive genetic effects of all single-nucleotide polymorphisms across the autosomal chromosomes, and thus the level of common genetic control of gene expression across the sexes. Genetic correlations are estimated across the sexes for the expression levels of 12,528 autosomal gene expression probes using bivariate GREML, and tested for differences in autosomal genetic control of gene expression across the sexes. Overall, no deviation of the distribution of test statistics is observed from that expected under the null hypothesis of a common autosomal genetic architecture for gene expression across the sexes.

Conclusions: These results suggest that males and females share the same common genetic control of gene expression.
Keyword Gene expression
Genetic correlation
Sex-specific genetic architecture
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 1 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 2 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 20 Dec 2016, 11:01:35 EST by System User on behalf of Learning and Research Services (UQ Library)