Results 71 to 80 of about 46,677 (295)

Unraveling Novel Genetic Determinants of Thiopurine Response Via TWAS

Clinical Pharmacology &Therapeutics, EarlyView.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Thiopurines such as 6‐mercaptopurine (6MP) are essential in ALL maintenance therapy. However, dose‐limiting toxicities can significantly disrupt treatment. While genetic variants in TPMT and NUDT15 are known to affect thiopurine response, many patients with normal function ...
Carlotta Bidoli, Wenjian Yang, Seth E. Karol, Marianna Lucafò, Gabriele Stocco, Jun J. Yang   +5 more
wiley   +1 more source

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

Scientific Reports, 2018
Genome-wide association studies (GWAS) have identified numerous genetic variants in the human genome associated with diseases and traits. Nevertheless, for most loci the causative variant is still unknown.
Tobias Strunz, Felix Grassmann, Javier Gayán, Satu Nahkuri, Debora Souza-Costa, Cyrille Maugeais, Sascha Fauser, Everson Nogoceke, Bernhard H. F. Weber   +8 more
doaj   +1 more source

Integrative analysis of low- and high-resolution eQTL.

PLoS ONE, 2010
The study of expression quantitative trait loci (eQTL) is a powerful way of detecting transcriptional regulators at a genomic scale and for elucidating how natural genetic variation impacts gene expression.
Salvatore Loguercio, Rupert W Overall, Jacob J Michaelson, Tim Wiltshire, Mathew T Pletcher, Brooke H Miller, John R Walker, Gerd Kempermann, Andrew I Su, Andreas Beyer   +9 more
doaj   +1 more source

Expression Quantitative Trait Locus Study of Non-Syndromic Cleft Lip with or without Cleft Palate GWAS Variants in Lip Tissues

Cells, 2022
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disease with a strong genetic component. More than 40 loci have been identified to be associated with the risk of NSCL/P by genome-wide association studies (GWASs), but the ...
Xiaofeng Li, Yu Tian, Ling Qiu, Shu Lou, Guirong Zhu, Yue Gao, Lan Ma, Yongchu Pan   +7 more
doaj   +1 more source

Accurate modeling of confounding variation in eQTL studies leads to a great increase in power to detect trans-regulatory effects [PDF]

, 2011
Expression quantitative trait loci (eQTL) studies are an integral tool to investigate the genetic component of gene expression variation. A major challenge in the analysis of such studies are hidden confounding factors, such as unobserved covariates or ...
Neil Lawrence, Nicolo Fusi, Oliver Stegle   +2 more
core   +1 more source

Toward a Genetic Signature of Resistance to Activity‐Based Anorexia in Striatal Projecting Cortical Neurons

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Converging evidence from neuroimaging studies and genome‐wide association study (GWAS) suggests the involvement of prefrontal cortex (PFC) and striatum dysfunction in the pathophysiology of anorexia nervosa (AN). However, identifying the causal role of circuit‐specific genes in the development of the AN‐like phenotype remains ...
K. Huang, M. A. Magateshvaren Saras, K. Conn, E. Greaves, F. Reed, S. Tyagi, H. Munguba, C. J. Foldi   +7 more
wiley   +1 more source

Data-driven assessment of eQTL mapping methods

BMC Genomics, 2010
Background The analysis of expression quantitative trait loci (eQTL) is a potentially powerful way to detect transcriptional regulatory relationships at the genomic scale.
Schughart Klaus, Alberts Rudi, Michaelson Jacob J, Beyer Andreas   +3 more
doaj   +1 more source

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]

, 2020
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Donovan, Margaret KR, Frazer, Kelly A   +3 more
core  

Mendelian randomization integrating GWAS and eQTL data revealed genes pleiotropically associated with major depressive disorder

Translational Psychiatry, 2020
Previous genome-wide association studies (GWAS) have identified potential genetic variants associated with the risk of major depressive disorder (MDD), but the underlying biological interpretation remains largely unknown.
Huarong Yang, Di Liu, Chuntao Zhao, B. Feng, Wenjin Lu, Xiaohan Yang, Minglu Xu, Weizhu Zhou, Huiquan Jing, Jingyun Yang   +9 more
semanticscholar   +1 more source

Assessing the causal relationship between the plasma proteome and epilepsy: A Mendelian randomization study

Epilepsia Open, EarlyView.
Abstract Objective Understanding the role of plasma proteins in the pathophysiology of epilepsy is crucial for uncovering novel biological mechanisms and therapeutic targets. Mendelian randomization (MR) provides a valuable tool for dissecting potentially causal associations between circulating proteins and disease risk.
Jingfeng Fu, Wei Wu, Shangren Shen
wiley   +1 more source