Correspondence
|
Open Access
Featured
-
-
Article
| Open AccessLarge-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
Hand grip strength as a proxy of muscular fitness is a clinical predictor of mortality and morbidity. In a large-scale GWA study, the authors find 16 robustly associated genetic loci that highlight roles in muscle fibre structure and function, neuronal maintenance and nervous system signal transduction.
- Sara M. Willems
- , Daniel J. Wright
- & Robert A. Scott
-
Article
| Open AccessInnate and adaptive immune traits are differentially affected by genetic and environmental factors
Both genetics and environment affect the number and phenotype of immune cells. Here the authors characterize the degree of influence of genetics versus environment on various immune cell parameters by analysing a large cohort of female twins.
- Massimo Mangino
- , Mario Roederer
- & Tim D. Spector
-
Article
| Open AccessMultidimensional heritability analysis of neuroanatomical shape
Neuroanatomical shape measurements are multidimensional geometric descriptions of brain structure. This study develops multivariate heritability analysis methods and examines structural brain MRI scans and genetic data to estimate the heritability of neuroanatomical shape.
- Tian Ge
- , Martin Reuter
- & Mert R. Sabuncu
-
Article
| Open AccessMultiple novel gene-by-environment interactions modify the effect of FTO variants on body mass index
Common variants in the fat mass and obesity associated (FTO) gene are linked to body mass index (BMI). Using the latest UK Biobank data, this study shows novel gene x environment interactions between FTOand lifestyle factors, including frequency of alcohol consumption, sleep, and added dietary salt.
- Alexander I. Young
- , Fabian Wauthier
- & Peter Donnelly
-
Article
| Open AccessIntegrative functional genomics identifies regulatory mechanisms at coronary artery disease loci
Coronary heart disease is the leading cause of death worldwide with multiple environmental and genetic risk factors. Here the authors integrate genomic, epigenomic and transcriptomic mapping to elucidate causal variation and mechanisms of known genetic associations.
- Clint L. Miller
- , Milos Pjanic
- & Thomas Quertermous
-
Article
| Open AccessFunctional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41
A common susceptibility haplotype for renal cell carcinoma is located on chromosome 12p12.1. Here, the authors show that the variant rs7132434 alters binding of the AP-1 transcription factor, which increases the expression of BHLHE41in renal cells.
- Pierre Bigot
- , Leandro M. Colli
- & Stephen J. Chanock
-
Article
| Open AccessBehavioural traits propagate across generations via segregated iterative-somatic and gametic epigenetic mechanisms
Physiological effects of psychological stress and infection in mothers can increase the incidence of anxiety and psychiatric diseases in offsprings and in subsequent generation. Here, Miklos Toth and colleagues show that intergenerational inheritance of neurological traits is propagated across multiple generations independently by parallel non-genetic mechanisms involving independent segregation of epigenetic specific loci.
- Emma Mitchell
- , Shifra L. Klein
- & Miklos Toth
-
Article
| Open AccessPredicting quantitative traits from genome and phenome with near perfect accuracy
Heritability of complex traits can be finely dissected using yeast crosses. Here, Kaspar Märtens and colleagues show that quantitative traits in yeast can be predicted from genotype and phenotype data with an average coefficient of determination of 0.91, providing the most accurate predictions of complex traits to date.
- Kaspar Märtens
- , Johan Hallin
- & Leopold Parts
-
Article
| Open AccessGenome-wide association and high-resolution phenotyping link Oryza sativa panicle traits to numerous trait-specific QTL clusters
Panicle architecture is an important determinant of crop yield and a target of selection by plant breeders. Here, Crowell et al.combine image-based phenotyping with high-density array-based genotyping to perform a genome-wide association study revealing a number of candidate genes linked to panicle variation in rice.
- Samuel Crowell
- , Pavel Korniliev
- & Susan McCouch
-
Article
| Open AccessGenetic interactions contribute less than additive effects to quantitative trait variation in yeast
This study uses a large number of crosses between a common lab strain and vineyard-isolated strain of yeast, and estimates the phenotypic variance for various quantitative traits. Using this data set, the authors show additive quantitative trait loci (QTL) and QTL–QTL interactions to be on average 43% and 9%, respectively.
- Joshua S. Bloom
- , Iulia Kotenko
- & Leonid Kruglyak
-
Article
| Open AccessCis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer
Genome-wide association studies have identified regions which confer risk of high-grade serous epithelial ovarian cancer. Here the authors use expression quantitative train locus analysis to identify candidate genes and functionally characterise them, identifying a role for HOXD9 in ovarian cancer.
- Kate Lawrenson
- , Qiyuan Li
- & Matthew L. Freedman
-
Article
| Open AccessGenetic mapping uncovers cis-regulatory landscape of RNA editing
Adenosine-to-inosine (A-to-I) RNA editing plays an important role in neurological functions. Here, by a quantitative trait loci (QTL) mapping approach in 131 Drosophila melanogasterstrains, the authors identify 545 QTLs associated with differences in RNA editing.
- Gokul Ramaswami
- , Patricia Deng
- & Jin Billy Li
-
Article
| Open AccessGenome-wide analysis of the genetic regulation of gene expression in human neutrophils
Neutrophils are abundant immune cells important for antimicrobial defence and in autoimmunity. Here, by mapping expression quantitative trait loci (eQTL) in neutrophils of Chinese ethnicity from Singapore, Andiappan et al.provide a resource for understanding immune-related trait associated genetic variants.
- Anand Kumar Andiappan
- , Rossella Melchiotti
- & Olaf Rotzschke
-
Article
| Open AccessGenomic modulators of gene expression in human neutrophils
Neutrophils are the most abundant subset of leukocyte and central to many diseases. Here by mapping expression quantitative trait loci (eQTL) in the context of epigenetic marks in neutrophils and monocytes of 101 healthy European adults, the authors provide a resource to advance understanding of immune-related trait-associated genetic variants.
- Vivek Naranbhai
- , Benjamin P. Fairfax
- & Julian C. Knight
-
Article |
Genome-wide identification of microRNA expression quantitative trait loci
As important post-transcriptional regulators of gene expression, microRNAs play a key role in the generation of complex phenotypes. Here, Huan et al.identify miR-eQTLs in whole blood samples to create a roadmap linking regulation of microRNA expression to complex diseases.
- Tianxiao Huan
- , Jian Rong
- & Jane E. Freedman
-
Article |
Epigenetic variation in the Egfr gene generates quantitative variation in a complex trait in ants
Variation in complex traits is generated by the interaction of genetic and environmental factors. Here, the authors show that genome-wide DNA methylation indirectly regulates quantitative methylation of the Egfrgene to generate continuous size variation of larvae workers in the carpenter ant.
- Sebastian Alvarado
- , Rajendhran Rajakumar
- & Moshe Szyf
-
Article
| Open AccessLong-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci
There is a functional link between SNPs and epigenetic variations when they are in close range, but the long-range effect is unclear. Here, by analysing methylation quantitative trait loci, the authors demonstrate that methylation levels at CpG sites in lymphocytes are correlated with distal SNPs.
- Mathieu Lemire
- , Syed H.E. Zaidi
- & Thomas J. Hudson
-
Article
| Open AccessOsAAP6 functions as an important regulator of grain protein content and nutritional quality in rice
Grain protein content (GPC) contributes to the nutritional quality of cereals. Here, the authors show that the OsAAP6 quantitative trait locus in rice controls GPC by regulating the synthesis and accumulation of several grain storage proteins and starch.
- Bo Peng
- , Huili Kong
- & Yuqing He
-
Article |
Natural variation in arsenate tolerance identifies an arsenate reductase in Arabidopsis thaliana
Arsenic tolerance in plants is critical for their adaptation to some soils and has therefore played an important role in plant distribution. Here, the authors identify a quantitative trait locus encoding an arsenate reductase enzyme that confers arsenic tolerance in plants.
- Eduardo Sánchez-Bermejo
- , Gabriel Castrillo
- & Antonio Leyva
-
Article
| Open AccessIdentification of a novel salt tolerance gene in wild soybean by whole-genome sequencing
The identification of genes that control economically important traits is an essential step towards crop improvement. Here the authors sequence the genome of the wild soybean and, through a combined genetic and functional approach, identify a new gene affecting salt tolerance in soybean.
- Xinpeng Qi
- , Man-Wah Li
- & Hon-Ming Lam
-
Article
| Open AccessNew approach for rice improvement using a pleiotropic QTL gene for lodging resistance and yield
Much effort has been devoted to the generation of rice plants with short stature to improve grain yield and increased resistance to lodging. Through quantitative trait analysis, these authors identify a gene—STRONG CULM2—that confers increased grain yield, culm strength and spikelet number in rice.
- Taiichiro Ookawa
- , Tokunori Hobo
- & Makoto Matsuoka