scholarly journals A New Liver Expression Quantitative Trait Locus Map From 1,183 Individuals Provides Evidence for Novel Expression Quantitative Trait Loci of Drug Response, Metabolic, and Sex‐Biased Phenotypes

2020 ◽  
Vol 107 (6) ◽  
pp. 1383-1393
Author(s):  
Amy S. Etheridge ◽  
Paul J. Gallins ◽  
Dereje Jima ◽  
K. Alaine Broadaway ◽  
Mark J. Ratain ◽  
...  
Keyword(s):  
Quantitative Trait Locus ◽  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Drug Response ◽  
Expression Quantitative Trait Locus ◽  
Expression Quantitative Trait Loci ◽  
Trait Loci ◽  
Trait Locus

scholarly journals The Genetic Basis of Plasma Variation in Adiponectin, a Global Endophenotype for Obesity and the Metabolic Syndrome

2001 ◽  
Vol 86 (9) ◽  
pp. 4321-4325 ◽  
Author(s):  
Anthony G. Comuzzie ◽  
Tohru Funahashi ◽  
Gabriele Sonnenberg ◽  
Lisa J. Martin ◽  
Howard J. Jacob ◽  
...  
Keyword(s):  
Quantitative Trait Locus ◽  
Quantitative Trait Loci ◽  
Genetic Analysis ◽  
Quantitative Trait ◽  
European Ancestry ◽  
Chromosome 5 ◽  
Lod Score ◽  
The Metabolic Syndrome ◽  
Trait Loci ◽  
Trait Locus

Here we present the first genetic analysis of adiponectin levels, a newly identified adipocyte-derived protein. Recent work has suggested that adiponectin may play a role in mediating the effects of body weight as a risk factor for coronary artery disease. For this analysis we assayed serum levels of adiponectin in 1100 adults of predominantly northern European ancestry distributed across 170 families. Quantitative genetic analysis of adiponectin levels detected an additive genetic heritability of 46%. The maximum LOD score detected in a genome wide scan for adiponectin levels was 4.06 (P = 7.7 × 10−6), 35 cM from pter on chromosome 5. The second largest LOD score (LOD = 3.2; P = 6.2 × 10−5) was detected on chromosome 14, 29 cM from pter. The detection of a significant linkage with a quantitative trait locus on chromosome 5 provides strong evidence for a replication of a previously reported quantitative trait locus for obesity-related phenotypes. In addition, several secondary signals offer potential evidence of replications for additional previously reported obesity-related quantitative trait loci on chromosomes 2 and 10. Not only do these results identify quantitative trait loci with significant effects on a newly described, and potentially very important, adipocyte-derived protein, they also reveal the emergence of a consistent pattern of linkage results for obesity-related traits across a number of human populations.

scholarly journals Optimizing expression quantitative trait locus mapping workflows for single-cell studies

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Anna S. E. Cuomo ◽  
Giordano Alvari ◽  
Christina B. Azodi ◽  
Davis J. McCarthy ◽  
Marc Jan Bonder ◽  
...  
Keyword(s):  
Gene Expression ◽  
Quantitative Trait Locus ◽  
Single Cell ◽  
Quantitative Trait ◽  
Cell Types ◽  
Expression Quantitative Trait Locus ◽  
Eqtl Mapping ◽  
Trait Locus ◽  
The Impact

Abstract Background Single-cell RNA sequencing (scRNA-seq) has enabled the unbiased, high-throughput quantification of gene expression specific to cell types and states. With the cost of scRNA-seq decreasing and techniques for sample multiplexing improving, population-scale scRNA-seq, and thus single-cell expression quantitative trait locus (sc-eQTL) mapping, is increasingly feasible. Mapping of sc-eQTL provides additional resolution to study the regulatory role of common genetic variants on gene expression across a plethora of cell types and states and promises to improve our understanding of genetic regulation across tissues in both health and disease. Results While previously established methods for bulk eQTL mapping can, in principle, be applied to sc-eQTL mapping, there are a number of open questions about how best to process scRNA-seq data and adapt bulk methods to optimize sc-eQTL mapping. Here, we evaluate the role of different normalization and aggregation strategies, covariate adjustment techniques, and multiple testing correction methods to establish best practice guidelines. We use both real and simulated datasets across single-cell technologies to systematically assess the impact of these different statistical approaches. Conclusion We provide recommendations for future single-cell eQTL studies that can yield up to twice as many eQTL discoveries as default approaches ported from bulk studies.

A functional strategy to characterize expression Quantitative Trait Loci

2017 ◽  
Vol 136 (11-12) ◽  
pp. 1477-1487 ◽  
Author(s):  
Elena Grassi ◽  
Elisa Mariella ◽  
Mattia Forneris ◽  
Federico Marotta ◽  
Marika Catapano ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Loci ◽  
Functional Strategy ◽  
Trait Loci

scholarly journals Delineamento de experimentos em genética genômica

2007 ◽  
Vol 36 (suppl) ◽  
pp. 211-218 ◽  
Author(s):  
Guilherme Jordão de Magalhães Rosa
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Loci ◽  
Trait Loci

Genética genômica é um termo utilizado para representar o estudo de processos genéticos controladores de caracteres fenotípicos de herança complexa, a partir da análise conjunta de informação relativa a fenótipos, estruturas de parentesco, marcadores moleculares e expressão gênica. Estudos de genética genômica são utilizados, por exemplo, para a estimação da herdabilidade de níveis de transcrição, para o mapeamento de locos controladores da expressao gênica (eQTL, do inglês expression Quantitative Trait Loci), e para o estudo de redes regulatórias. Genética genômica geralmente envolve experimentos com microarrays, os quais são ainda bastante caros e trabalhosos, limitando o tamanho amostral e conseqüentemente o poder estatístico de tais estudos. Desta maneira, é essencial que tais experimentos sejam otimizados do ponto de vista do delineamento, a partir de criteriosa escolha das amostras (indivíduos) a serem utilizadas, e do controle rigoroso dos vários fatores que podem afetar as variáveis-resposta de interesse. Outro ponto fundamental na condução de tais experimentos refere-se à marcação das amostras de mRNA com os fluoróforos e ao pareamento das mesmas em cada lâmina de microarray, os quais devem ser cuidadosamente planejados para que não haja confundimento entre estes efeitos e os fatores biológicos de interesse. Nesta apresentação serão discutidas algumas estratégias para o planejamento de estudos de genética genômica, incluindo a seleção de indivíduos objetivando-se a maximização da dissimilaridade genética ou do número de eventos de recombinação, bem como a condução eficiente dos ensaios com microarrays para diferentes objetivos experimentais.

scholarly journals A statistical model for functional mapping of quantitative trait loci regulating drug response

2004 ◽  
Vol 4 (5) ◽  
pp. 315-321 ◽  
Author(s):  
Y Gong ◽  
Z Wang ◽  
T Liu ◽  
W Zhao ◽  
Y Zhu ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Statistical Model ◽  
Quantitative Trait ◽  
Drug Response ◽  
Functional Mapping ◽  
Trait Loci
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