scholarly journals Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

2014 ◽  
Vol 35 (6) ◽  
pp. 1514.e1-1514.e12 ◽  
Author(s):  
Raffaele Ferrari ◽  
Mina Ryten ◽  
Roberto Simone ◽  
Daniah Trabzuni ◽  
Naiya Nicolaou ◽  
...  
PLoS Genetics ◽  
2013 ◽  
Vol 9 (1) ◽  
pp. e1003240 ◽  
Author(s):  
Sophie Garnier ◽  
Vinh Truong ◽  
Jessy Brocheton ◽  
Tanja Zeller ◽  
Maxime Rovital ◽  
...  

2015 ◽  
Author(s):  
Christine Peterson ◽  
Susan Service ◽  
Anna Jasinska ◽  
Fuying Gao ◽  
Ivette Zelaya ◽  
...  

The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and a wide range of BP-related quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus.


2021 ◽  
Vol 12 ◽  
Author(s):  
Kaitlyn R. Daza ◽  
Deborah Velez-Irizarry ◽  
Sebastian Casiró ◽  
Juan P. Steibel ◽  
Nancy E. Raney ◽  
...  

Determining mechanisms regulating complex traits in pigs is essential to improve the production efficiency of this globally important protein source. MicroRNAs (miRNAs) are a class of non-coding RNAs known to post-transcriptionally regulate gene expression affecting numerous phenotypes, including those important to the pig industry. To facilitate a more comprehensive understanding of the regulatory mechanisms controlling growth, carcass composition, and meat quality phenotypes in pigs, we integrated miRNA and gene expression data from longissimus dorsi muscle samples with genotypic and phenotypic data from the same animals. We identified 23 miRNA expression Quantitative Trait Loci (miR-eQTL) at the genome-wide level and examined their potential effects on these important production phenotypes through miRNA target prediction, correlation, and colocalization analyses. One miR-eQTL miRNA, miR-874, has target genes that colocalize with phenotypic QTL for 12 production traits across the genome including backfat thickness, dressing percentage, muscle pH at 24 h post-mortem, and cook yield. The results of our study reveal genomic regions underlying variation in miRNA expression and identify miRNAs and genes for future validation of their regulatory effects on traits of economic importance to the global pig industry.


2017 ◽  
Vol 2017 ◽  
pp. 1-14
Author(s):  
Hanseol Kim ◽  
Yujin Suh ◽  
Chaeyoung Lee

A genome-wide association study (GWAS) was conducted to examine expression quantitative trait loci (eQTLs) for histone genes. We examined common eQTLs for multiple histone genes in 373 European lymphoblastoid cell lines (LCLs). A linear regression model was employed to identify single-nucleotide polymorphisms (SNPs) associated with expression of the histone genes, and the number of eQTLs was determined by linkage disequilibrium analysis. Additional associations of the identified eQTLs with other genes were also examined. We identified 31 eQTLs for 29 histone genes through genome-wide analysis using 29 histone genes (P<2.97×10−10). Among them, 12 eQTLs were associated with the expression of multiple histone genes. Transcriptome-wide association analysis using the identified eQTLs showed their associations with additional 80 genes (P<4.75×10−6). In particular, expression of RPPH1, SCARNA2, and SCARNA7 genes was associated with 26, 25, and 23 eQTLs, respectively. This study suggests that histone genes shared 12 common eQTLs that might regulate cell cycle-dependent transcription of histone and other genes. Further investigations are needed to elucidate the transcriptional mechanisms of these genes.


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