Online Supplementary Data Table 3: expression quantitative trait loci (eQTL
) of SNPs associated with blood pressure progression and incident hypertension--eQTL from mRNA expression of otherwise normal human cardiovascular tissues based on the * GTEx Analysis Release V6p (dbGaP accession phs000424.v6.p1).
The mechanisms underlying the genotype-phenotype correlations of SNCA-rs11931074 may be that the variant could influence the expression of SNCA and the following level of a-synuclein protein by our finding in eQTL
AIM 2: Melanoma 2 BXD: C57BL/6J X DBA/2 eQTL
: Expression quantitative trait loci ifi: Interferon inducible Ifi200: Interferon-inducible-200 IL: Interleukin IP: Interferon-inducible protein LRS: Likelihood ratio statistic MNDA: Myeloid cell nuclear differentiation antigen OA: Osteoarthritis RA: Rheumatoid arthritis RF: Rheumatoid factor RI: Recombinant inbred SAD: Spontaneous arthritis disease SLE: Systemic lupus erythematosus Tpr: Translocated promoter region.
Esko et al., "Systematic identification of trans eQTLs
as putative drivers of known disease associations," Nature Genetics, vol.
(70,71) For evaluation of the function of SNPs that are located in gene expression regulatory regions, eQTL
analysis for each SNP provides indispensable evidence as a kind of "in vivo data in humans".
Association of IL12A Expression Quantitative Trait Loci (eQTL
) With primary biliary cirrhosis in a Chinese Han population.
Liu, "A Bayesian partition method for detecting pleiotropic and epistatic eQTL
modules," PLoS Computational Biology, vol.
Xing, "Leveraging input and output structures for joint mapping of epistatic and marginal eQTLs
," Bioinformatics, vol.
Expression quantitative trait loci (eQTLs
) are a group of important regulatory loci, which can regulate gene expression levels.
Although expression quantitative trait loci (eQTL
) evidence is absent, but there are numerous binding sites besides rs3027392 for several DNA binding proteins and transcription factors such as E1A binding protein p300 (EP300) and RE1-silencing transcription factor (formerly called Neuron Restrictive Silencer Factor [NRSF]), a transcriptional repressor that represses neuronal genes in non-neuronal tissues.26 EP300 functions as a histone acetyl transferase and transcription co-activator that regulates chromatin remodelling and mutations in this gene are reported to cause Rubinstein- Taybi syndrome, a disorder with many behavioural phenotypes.27,28
Other interesting questions concerning gene regulation can be addressed by combining expression or eQTL
and QTL, such as the relative contributions of cis-regulatory elements versus trans-regulatory elements.
To identify functional relevance in our findings, we checked for the potential functional effect of identified SNPs on gene expression by analyzing gene-SNP association in expression quantitative trait loci (eQTL
) studies with the Genevar (GENe Expression VARiation) database (http://www.sanger.ac.uk/resources/software/genevar/) (31) in the HapMap3 data set.