Sex- and age-interacting eQTLs in human complex diseases.
Many complex human diseases exhibit sex or age differences in gene expression. However, the presence and the extent of genotype-specific variations in gene regulation are largely unknown. Here, we report results of a comprehensive analysis of expression regulation of genetic variation related to 11,672 complex disease-associated SNPs as a function of sex and age in whole-blood-derived RNA from 5254 individuals. At false discovery rate <0.05, we identified 14 sex- and 10 age-interacting expression quantitative trait loci (eQTLs). We show that these eQTLs are also associated with many sex- or age-associated traits. These findings provide important context regarding the regulation of phenotypes by genotype-environment interaction.
National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.
Chen
C
Yao
Roby
R
Joehanes
Andrew D
AD
Johnson
Tianxiao
T
Huan
Tõnu
T
Esko
Saixia
S
Ying
Jane E
JE
Freedman
Joanne
J
Murabito
Kathryn L
KL
Lunetta
Andres
A
Metspalu
Peter J
PJ
Munson
Daniel
D
Levy
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D015870:Gene Expression; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008245:Lysophospholipase / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci / Q000235:genetics*; D012737:Sex Factors
D026901:Membrane Transport Proteins; C583905:SLC44A4 protein, human; D008245:Lysophospholipase; C561408:LYPLAL1 protein, human