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152 results for “polygenes”
GCTB SBayesR shrunk sparse linkage disequilibrium matrices for HM3 variants, summary statistics and predictors generated from "Improved polygenic prediction by Bayesian multiple regression on summary statistics" by Lloyd-Jones, Zeng et al. 2019.
<p>GCTB LD matrices and results for HapMap 3 variants and 2.8M variants, which were used for</p> <p>simulation, cross-validation and across biobank analyses in the manuscript "Improved polygenic</p> <p>prediction by Bayesian multiple regression on summary statistics" by Lloyd-Jones, Zeng et al.</p> <p>2019.</p> <p>Unzip and see README for further details.</p>
Variable prediction accuracy of polygenic scores within an ancestry group
<p class="formanuscript">Fields as diverse as human genetics and sociology are increasingly using polygenic scores based on genome-wide association studies (GWAS) for phenotypic prediction. However, recent work has shown that polygenic scores have limited portability across groups of different genetic ancestries, restricting the contexts in which they can be used reliably and potentially creating serious inequities in future clinical applications. Using the UK Biobank data, we demonstrate that even within a single ancestry group (i.e., when there are negligible differences in linkage disequilibrium or in causal alleles frequencies), the prediction accuracy of polygenic scores can depend on characteristics such as the socio-economic status, age or sex of the individuals in which the GWAS and the prediction were conducted, as well as on the GWAS design. Our findings highlight both the complexities of interpreting polygenic scores and underappreciated obstacles to their broad use.</p>
Polygenic and major-locus contributions to sexual maturation timing in Atlantic salmon
<p>Sexual maturation timing is a life-history trait central to the balance between mortality and reproduction. Maturation may be triggered when an underlying compound trait, called liability, exceeds a threshold. In many different species and especially fishes, this liability is approximated by growth and body condition. However, environmental vs. genetic contributions either directly or via growth and body condition to maturation timing remain unclear. Uncertainty exists also because the maturation process can reverse this causality and itself affect growth and body condition. In addition, disentangling the contributions of polygenic and major loci can be important. In many fishes, males mature before females, enabling the study of associations between male maturation and maturation-unbiased female liability traits. Using 40 Atlantic salmon families, longitudinal common-garden experimentation, and quantitative genetic analyses, we disentangled environmental from polygenic and major locus (vgll3) effects on male maturation, and sex-specific growth and condition. We detected polygenic heritabilities for maturation, growth, and body condition, and vgll3 effects on maturation and body condition but not on growth. Longitudinal patterns for sex-specific phenotypic liability, and for genetic variances and correlations between sexes suggested that early growth and condition indeed positively affected maturation initiation. However, towards spawning time, causality appeared reversed for males whereby maturation affected growth negatively and condition positively via both the environmental and genetic effects. Altogether, the results indicate that growth and condition are useful traits to study liability for maturation initiation, but only until maturation alters their expression, and that vgll3 contributes to maturation initiation via condition.</p>
Thyroid cancer polygenic risk score improves classification of thyroid nodules as benign or malignant.
<p>Supplementary Data for the manuscript: Thyroid cancer polygenic risk score improves classification of thyroid nodules as benign or malignant. Nikita Pozdeyev, MD, PhD (ORCiD ID: 0000-0001-8574-1972), Manjiri Dighe, MD, Martin Barrio, MD, MS, Christopher Raeburn, MD, Harry Smith, MS, Matthew Fisher, MS, Sameer Chavan, MS, Nicholas Rafaels, MS, Jonathan A. Shortt, PhD, Meng Lin, PhD, Michael G. Leu, MD, Toshimasa Clark, MD, Carrie Marshall, MD, Bryan R. Haugen, MD, Devika Subramanian, PhD, Regeneron Genetics Center, Kristy Crooks, PhD, Christopher Gignoux, PhD, Trevor Cohen, MBChB, PhD, FACMI</p>
Genetic architecture and polygenic risk score prediction of degenerative suspensory ligament desmitis (DSLD) in the Peruvian Horse
<p class="MsoNormal"><strong>Introduction</strong>: Spontaneous rupture of tendons and ligaments is common in several species including humans. In horses, degenerative suspensory ligament desmitis (DSLD) is an important acquired idiopathic disease of a major energy-storing tendon-like structure. DSLD risk is increased in several breeds, including the Peruvian Horse. Affected horses have often been used for breeding before the disease is apparent. Breed predisposition suggests a substantial genetic contribution, but heritability and genetic architecture of DSLD have not been determined.</p> <p class="MsoNormal"><strong>Methods</strong>: To identify genomic regions associated with DSLD, we recruited a reference population of 183 Peruvian Horses, phenotyped as DSLD cases or controls, and undertook a genome-wide association study (GWAS), a regional window variance analysis using local genomic partitioning, a signatures of selection (SOS) analysis, and polygenic risk score (PRS) prediction of DSLD risk. We also estimated trait heritability from pedigrees.</p> <p class="MsoNormal"><strong>Results</strong>: Heritability was estimated in a population of 1,927 Peruvian horses at 0.22±0.08. After establishing a permutation-based threshold for genome-wide significance, 151 DSLD risk single nucleotide polymorphisms (SNPs) were identified by GWAS. Multiple regions of enriched local heritability were identified across the genome, with strong enrichment signals on chromosomes 1, 2, 6, 10, 13, 16, 18, 22, and the X chromosome. With SOS analysis, there were 66 genes with a selection signature in DSLD cases that was not present in the control group that included the <em>TGFB3</em> gene. Pathways enriched in DSLD cases included proteoglycan metabolism, extracellular matrix homeostasis, and signal transduction pathways that included the hedgehog signaling pathway. The best PRS predictive performance was obtained when we fitted 1% of top SNPs using a Bayesian Ridge Regression model which achieved the highest mean of R<sup>2</sup> on both the probit and logit liability scales, indicating a strong predictive performance.</p> <p><strong>Discussion</strong>: We conclude that within-breed GWAS of DSLD in the Peruvian Horse has further confirmed that moderate heritability and a polygenic architecture underlies the trait and identified multiple DSLD SNP associations in novel tendinopathy candidate genes influencing disease risk. Pathways enriched with DSLD risk variants include ones that influence glycosaminoglycan metabolism, extracellular matrix homeostasis, and signal transduction pathways.</p>
Data from: Genomic and transcriptomic analyses reveal polygenic architecture for ecologically-important functional traits in aspen (Populus tremuloides Michx.)
<p>Intraspecific genetic variation in foundation species such as aspen (<em>Populus</em> <em>tremuloides</em> Michx.) shapes their impact on forest structure and function. Identifying genes underlying ecologically important traits is key to understanding that impact. Previous studies, using single-locus genome-wide association (GWA) analyses to identify candidate genes, have identified fewer genes than anticipated for highly heritable quantitative traits. Mounting evidence suggests that polygenic control of quantitative traits is largely responsible for this "missing heritability" phenomenon. Our research characterized the genetic architecture of 30 ecologically important traits using a common garden of aspen through genomic and transcriptomic analyses. A multilocus association model revealed that most traits displayed a highly polygenic architecture, with most variation explained by loci with small effects (likely below the detection levels of single-locus GWA methods). Consistent with a polygenic architecture, our single-locus GWA analyses found only 38 significant SNPs in 22 genes across 15 traits. Next, we used differential expression analysis on a subset of aspen genets with divergent concentrations of salicinoid phenolic glycosides (key defense traits). This complementary method to traditional GWA discovered 1,243 differentially expressed genes for a polygenic trait. Soft clustering analysis revealed three gene clusters (241 candidate genes) involved in secondary metabolite biosynthesis and regulation. Our work reveals that ecologically important traits governing higher-order community- and ecosystem-level attributes of a foundation forest tree species have complex underlying genetic structures and will require methods beyond traditional GWA analyses to unravel.</p>
Evaluation of polygenic scoring methods in five biobanks
<p>Raw experimental data to investigate the performance of polygenic score development methods across five biobanks</p>
Data from: Population genomics of rapid evolution in natural populations: polygenic selection in response to power station thermal effluents
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Cross-species analysis of genetic architecture and polygenic risk scores for non-contact ACL rupture in dogs and humans
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A polygenic architecture with habitat-dependent effects underlies ecological differentiation in Silene
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Parallel polygenic urban adaptation despite high gene flow in a coastal marine invertebrate
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Variable prediction accuracy of polygenic scores within an ancestry group
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Data for: Distinct impact modes of polygenic disposition to dyslexia in the adult brain
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Data from: Genomic and transcriptomic analyses reveal polygenic architecture for ecologically-important functional traits in aspen (Populus tremuloides Michx.)
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Genetic architecture and polygenic risk score prediction of degenerative suspensory ligament desmitis (DSLD) in the Peruvian Horse
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Genetic insight into a polygenic trait using a novel Genome Wide Association approach in a wild amphibian population
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Polygenic and major-locus contributions to sexual maturation timing in Atlantic salmon
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Polygenic modelling of treatment effect heterogeneity
<p>Xu, ZM, Burgess, S. Polygenic modelling of treatment effect heterogeneity. <em>Genetic Epidemiology</em>. 2020; 1– 12. <a href="https://doi.org/10.1002/gepi.22347">https://doi.org/10.1002/gepi.22347</a></p> <p>File contains: </p> <p>1. Summary statistics of genome-wide interaction study (between moderating variants and HMGCR pharmacomimetic score)</p> <p>2. Random forest of interaction tree (RFIT) objects. </p> <p>See README for detail</p>
Polygenic basis for adaptive morphological variation in a threatened Aotearoa | New Zealand bird, the hihi (Notiomystis cincta)
<p>To predict if a threatened species can adapt to changing selective pressures, it is crucial to understand the genetic basis of adaptive traits, especially in species historically affected by severe bottlenecks. We estimated the heritability of three hihi (<em>Notiomystis cincta</em>) morphological traits known to be under selection: nestling tarsus length, body mass and head-bill length, using 523 individuals and 39,699 single nucleotide polymorphisms (SNPs) from a 50K Affymetrix SNP chip. We then examined the genetic architecture of the traits via chromosome partitioning analyses and genome-wide association scans (GWAS). Heritabilities estimated using pedigree relatedness or genomic relatedness were low. For tarsus length, the proportion of genetic variance explained by each chromosome was positively correlated with its size, and more than one chromosome explained significant variation for body mass and head-bill length. Finally, GWAS analyses suggested many loci of small effect contributing to trait variation for all three traits, although one locus (a SNP within an intron of the transcription factor HEY2) was tentatively associated with tarsus length. Our findings suggest a polygenic nature for the morphological traits, with many small effect size loci contributing to the majority of the variation, similar to results from many other wild populations. However, the small effective population size, polygenic architecture and already low heritabilities suggest that both the total response and rate of response to selection are likely to be limited in hihi.</p>
Data from: Polygenic adaptation: from sweeps to subtle frequency shifts
Evolutionary theory has produced two conflicting paradigms for the adaptation of a polygenic trait. While population genetics views adaptation as a sequence of selective sweeps at single loci underlying the trait, quantitative genetics posits a collective response, where phenotypic adaptation results from subtle allele frequency shifts at many loci. Yet, a synthesis of these views is largely missing and the population genetic factors that favor each scenario are not well understood. Here, we study the architecture of adaptation of a binary polygenic trait (such as resistance) with negative epistasis among the loci of its basis. The genetic structure of this trait allows for a full range of potential architectures of adaptation, ranging from sweeps to small frequency shifts. By combining computer simulations and a newly devised analytical framework based on Yule branching processes, we gain a detailed understanding of the adaptation dynamics for this trait. Our key analytical result is an expression for the joint distribution of mutant alleles at the end of the adaptive phase. This distribution characterizes the polygenic pattern of adaptation at the underlying genotype when phenotypic adaptation has been accomplished. We find that a single compound parameter, the population-scaled background mutation rate $\Theta_{bg}$, explains the main differences among these patterns. For a focal locus, $\Theta_{bg}$ measures the mutation rate at all redundant loci in its genetic background that offer alternative ways for adaptation. For adaptation starting from mutation-selection-drift balance, we observe different patterns in three parameter regions. Adaptation proceeds by sweeps for small $\Theta_{bg} \lesssim 0.1$, while small polygenic allele frequency shifts require large $\Theta_{bg} \gtrsim 100$. In the large intermediate regime, we observe a heterogeneous pattern of partial sweeps at several interacting loci.
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Allen Brain Atlas
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