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Relevant bibliographies by topics / Genome-Wide polygenic score

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Academic literature on the topic 'Genome-Wide polygenic score'

Author: Grafiati

Published: 11 March 2023

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Journal articles on the topic "Genome-Wide polygenic score"

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Forrest, Iain S., Kumardeep Chaudhary, Ishan Paranjpe, et al. "Genome-wide polygenic risk score for retinopathy of type 2 diabetes." Human Molecular Genetics 30, no. 10 (2021): 952–60. http://dx.doi.org/10.1093/hmg/ddab067.

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Abstract Diabetic retinopathy (DR) is a common consequence in type 2 diabetes (T2D) and a leading cause of blindness in working-age adults. Yet, its genetic predisposition is largely unknown. Here, we examined the polygenic architecture underlying DR by deriving and assessing a genome-wide polygenic risk score (PRS) for DR. We evaluated the PRS in 6079 individuals with T2D of European, Hispanic, African and other ancestries from a large-scale multi-ethnic biobank. Main outcomes were PRS association with DR diagnosis, symptoms and complications, and time to diagnosis, and transferability to non

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Dauber, Andrew, Yan Meng, Laura Audi, et al. "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness." Journal of Clinical Endocrinology & Metabolism 105, no. 10 (2020): 3203–14. http://dx.doi.org/10.1210/clinem/dgaa443.

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Abstract Context Individual patients vary in their response to growth hormone (GH). No large-scale genome-wide studies have looked for genetic predictors of GH responsiveness. Objective To identify genetic variants associated with GH responsiveness. Design Genome-wide association study (GWAS). Setting Cohorts from multiple academic centers and a clinical trial. Patients A total of 614 individuals from 5 short stature cohorts receiving GH: 297 with idiopathic short stature, 276 with isolated GH deficiency, and 65 born small for gestational age. Intervention Association of more than 2 million va

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Thomas, Minta, Lori C. Sakoda, Michael Hoffmeister, et al. "Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk." American Journal of Human Genetics 107, no. 3 (2020): 432–44. http://dx.doi.org/10.1016/j.ajhg.2020.07.006.

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Choi, Shing Wan, Judit García-González, Yunfeng Ruan, et al. "PRSet: Pathway-based polygenic risk score analyses and software." PLOS Genetics 19, no. 2 (2023): e1010624. http://dx.doi.org/10.1371/journal.pgen.1010624.

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Polygenic risk scores (PRSs) have been among the leading advances in biomedicine in recent years. As a proxy of genetic liability, PRSs are utilised across multiple fields and applications. While numerous statistical and machine learning methods have been developed to optimise their predictive accuracy, these typically distil genetic liability to a single number based on aggregation of an individual’s genome-wide risk alleles. This results in a key loss of information about an individual’s genetic profile, which could be critical given the functional sub-structure of the genome and the heterog

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Curtis, David. "Clinical relevance of genome‐wide polygenic score may be less than claimed." Annals of Human Genetics 83, no. 4 (2019): 274–77. http://dx.doi.org/10.1111/ahg.12302.

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Lang, M., T. Leménager, F. Streit, et al. "Genome-wide association study of pathological gambling." European Psychiatry 36 (August 2016): 38–46. http://dx.doi.org/10.1016/j.eurpsy.2016.04.001.

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AbstractBackgroundPathological gambling is a behavioural addiction with negative economic, social, and psychological consequences. Identification of contributing genes and pathways may improve understanding of aetiology and facilitate therapy and prevention. Here, we report the first genome-wide association study of pathological gambling. Our aims were to identify pathways involved in pathological gambling, and examine whether there is a genetic overlap between pathological gambling and alcohol dependence.MethodsFour hundred and forty-five individuals with a diagnosis of pathological gambling

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Pain, Oliver, Alexandra C. Gillett, Jehannine C. Austin, Lasse Folkersen, and Cathryn M. Lewis. "A tool for translating polygenic scores onto the absolute scale using summary statistics." European Journal of Human Genetics 30, no. 3 (2022): 339–48. http://dx.doi.org/10.1038/s41431-021-01028-z.

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AbstractThere is growing interest in the clinical application of polygenic scores as their predictive utility increases for a range of health-related phenotypes. However, providing polygenic score predictions on the absolute scale is an important step for their safe interpretation. We have developed a method to convert polygenic scores to the absolute scale for binary and normally distributed phenotypes. This method uses summary statistics, requiring only the area-under-the-ROC curve (AUC) or variance explained (R2) by the polygenic score, and the prevalence of binary phenotypes, or mean and s

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Paranjpe, Ishan, Noah Tsao, Renae Judy, et al. "Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis." Kidney International 98, no. 5 (2020): 1323–30. http://dx.doi.org/10.1016/j.kint.2020.04.055.

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Sexton, Corinne E., Mark T. W. Ebbert, Ryan H. Miller, et al. "Common DNA Variants Accurately Rank an Individual of Extreme Height." International Journal of Genomics 2018 (September 4, 2018): 1–7. http://dx.doi.org/10.1155/2018/5121540.

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Polygenic scores (or genetic risk scores) quantify the aggregate of small effects from many common genetic loci that have been associated with a trait through genome-wide association. Polygenic scores were first used successfully in schizophrenia and have since been applied to multiple phenotypes including multiple sclerosis, rheumatoid arthritis, and height. Because human height is an easily-measured and complex polygenic trait, polygenic height scores provide exciting insights into the predictability of aggregate common variant effect on the phenotype. Shawn Bradley is an extremely tall form

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Belsky, Daniel W., Benjamin W. Domingue, Robbee Wedow, et al. "Genetic analysis of social-class mobility in five longitudinal studies." Proceedings of the National Academy of Sciences 115, no. 31 (2018): E7275—E7284. http://dx.doi.org/10.1073/pnas.1801238115.

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A summary genetic measure, called a “polygenic score,” derived from a genome-wide association study (GWAS) of education can modestly predict a person’s educational and economic success. This prediction could signal a biological mechanism: Education-linked genetics could encode characteristics that help people get ahead in life. Alternatively, prediction could reflect social history: People from well-off families might stay well-off for social reasons, and these families might also look alike genetically. A key test to distinguish biological mechanism from social history is if people with highe

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Dissertations / Theses on the topic "Genome-Wide polygenic score"

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Kawaguchi, Takahisa. "Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263348.

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Privé, Florian. "Genetic risk score based on statistical learning Efficient analysis of large-scale genome-wide data with two R packages: bigstatsr and bigsnpr Efficient implementation of penalized regression for genetic risk prediction Making the most of Clumping and Thresholding for polygenic scores." Thesis, Université Grenoble Alpes (ComUE), 2019. http://www.theses.fr/2019GREAS024.

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Le génotypage devient de moins en moins cher, rendant les données de génotypes disponibles pour des millions d’individus. Par ailleurs, l’imputation permet d’obtenir l’information génotypique pour des millions de positions de l’ADN, capturant l’essentiel de la variation génétique du génome humain. Compte tenu de la richesse des données et du fait que de nombreux traits et maladies sont héréditaires (par exemple, la génétique peut expliquer 80% de la variation de la taille dans la population), il est envisagé d’utiliser des modèles prédictifs basés sur l’information génétique dans le cadre d’un

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Shen, Hanyang, Bizu Gelaye, Hailiang Huang, Marta B. Rondon, Sixto Sanchez, and Laramie E. Duncan. "Polygenic prediction and GWAS of depression, PTSD, and suicidal ideation/self-harm in a Peruvian cohort." Springer Nature, 2020. http://hdl.handle.net/10757/652459.

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Genome-wide approaches including polygenic risk scores (PRSs) are now widely used in medical research; however, few studies have been conducted in low- and middle-income countries (LMICs), especially in South America. This study was designed to test the transferability of psychiatric PRSs to individuals with different ancestral and cultural backgrounds and to provide genome-wide association study (GWAS) results for psychiatric outcomes in this sample. The PrOMIS cohort (N = 3308) was recruited from prenatal care clinics at the Instituto Nacional Materno Perinatal (INMP) in Lima, Peru. Three ma

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Meijsen, Joeri Jeroen. "Combining genome-wide association studies, polygenic risk scores and SNP-SNP interactions to investigate the genomic architecture of human complex diseases : more than the sum of its parts." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33094.

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Major Depressive Disorder is a devastating psychiatric illness with a complex genetic and environmental component that affects 10% of the UK population. Previous studies have shown that that individuals with depression show poorer performance on measures of cognitive domains such as memory, attention, language and executive functioning. A major risk factor for depression is a higher level of neuroticism, which has been shown to be associated with depression throughout life. Understanding cognitive performance in depression and neuroticism could lead to a better understanding of the aetiology o

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Lind, Mackenzie J. "Sleep disturbances and depression: the role of genes and trauma." VCU Scholars Compass, 2017. http://scholarscompass.vcu.edu/etd/4858.

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Sleep disturbances and insomnia are prevalent, with around 33% of adults indicating that they experience at least one main symptom of insomnia, and bidirectional relationships exist with common psychopathology, particularly major depressive disorder (MDD). However, genetic and environmental (e.g., traumatic event exposure) contributions to the etiology of these phenotypes are not yet well understood. A genetically informative sample of approximately 12,000 Han Chinese women aged 30-60 (50% with recurrent MDD) was used to address several gaps within the sleep literature. Sleep disturbances were

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Huang, Xiufeng. "Immunogenetics of acute anterior uveitis and comparison to ankylosing spondylitis." Thesis, Queensland University of Technology, 2021. https://eprints.qut.edu.au/213839/1/Xiufeng_Huang_Thesis.pdf.

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This thesis comprehensively applies genome-wide association study, Mendelian randomization analyses, and cytokine proteomics to investigate the genetic basis and immunopathogenic mechanisms of acute anterior uveitis (AAU). Multiple susceptibility loci, environmental risk factors, and potential biomarkers are identified, and a polygenic risk score for AAU developed. These findings provide novel insights into the immunogenetics in AAU, and contribute to clinical translational studies.

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Charmet, Romain. "Étude des interactions entre la fonction rénale, la thrombose artérielle et la thrombose veineuse par une approche génétique Novel risk genes identified in a genome‑wide association study for coronary artery disease in patients with type 1 diabetes Association of impaired renal function with venous thrombosis: A genetic risk score approach." Thesis, Sorbonne université, 2018. http://www.theses.fr/2018SORUS392.

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L'objet de cette thèse est l'étude de la génétique des coronaropathies dans le contexte du diabète de type I et de la génétique de la thrombose veineuse ainsi que de l'interaction entre ces facteurs génétiques et la fonction rénale. Le but de ces travaux et d'apporter de nouveaux éléments permettant de caractériser le rôle de la fonction rénale dans le développement des maladies cardiovasculaires. À l'aide d'une approche GWAS je cherche à identifier des marqueurs génétiques associés au risque de coronaropathie dans un groupe cas-témoin composé de patients atteints de diabète de type I et d'étu

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Shih, Yu-Hsuan, and 施又瑄. "A Genome-wide Association Study of Neurocognitive Impairments in Schizophrenia: Polygenic Score Approach." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/70148708696391474501.

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碩士<br>國立臺灣大學<br>流行病學與預防醫學研究所<br>102<br>Schizophrenia is considered to be genetically and phenotypically heterogeneous. The high heritability of neurocognitive impairments found in patients with schizophrenia suggests that these impairments may serve as an endophenotype resulting from a set of underlying genes in a mode of polygenic effects. In this study, a total of 165 schizophrenia patients were selected and these subjects were subjected to genotyping for 642,832 single nucleotide polymorphisms (SNPs). After quality control, 564,110 SNPs were left. We then performed principal component analy

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Books on the topic "Genome-Wide polygenic score"

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Kan, Carol, and Ma-Li Wong. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198789284.003.0004.

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An association between type 2 diabetes mellitus (T2DM) and depression has been reported in epidemiological studies. Finding a genetic overlap between T2DM and depression will provide evidence to support a common biological pathway to both disorders. Genetic correlations observed from twin studies indicate that a small magnitude of the variance in liability can be attributed to genetic factors. However, no genetic overlap has been observed between T2DM and depression in genome-wide association studies using both the polygenic score and the linkage disequilibrium score regression approaches. Cla

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Langley, Kate. ADHD genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0003.

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This chapter reviews the evidence suggesting that there is a strong genetic component to ADHD and the efforts to identify the specific genetic factors that might be involved. It discusses the different types of genetic contributions, from common to rare variants, and the evidence that these are involved in the aetiology of the disorder. An overview of the methodological strategies employed, including genome-wide association studies (GWAS), polygenic risk score, and copy number variant (CNV) analyses, is undertaken, as well as discussion of the strengths and pitfalls of such work. The contradic

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Book chapters on the topic "Genome-Wide polygenic score"

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Nurnberger, John I. "General genetics of bipolar disorder." In The Bipolar Brain. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197574522.003.0011.

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It has been known for centuries that major mood disorders, including bipolar disorder, cluster in families. The heritability of bipolar disorder appears to be about 85%. Some of that heritability can now be assigned to specific common genetic variants identified in genome-wide association studies and specific rare variants identified in sequencing studies. Some key areas for ongoing investigation include calcium channel–related genes, variants related to synaptic transmission, and markers of neuronal growth and development. Genetic counseling is now based on empirical risk figures from family studies but may in the future be aided by genetic measures such as polygenic risk scores and/or screening for rare variants.

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Halldorsdottir, Thorhildur, and Hildur Ýr Hilmarsdottir. "Genetic Risk Factors of Depression." In Depression, edited by Sonia Israel, David Benrimoh, Sylvanne Daniels, and Gustavo Turecki. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190929565.003.0003.

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Research on the genetic underpinnings of depression has rapidly advanced in the past decade. This field of research provides a promising avenue toward improving the diagnosis of, prevention of, and treatment for this devastating disorder. The goal of this chapter is to review the main genetic and gene-by-environment interaction findings on depression. We first describe family and twin studies used to empirically study the familial aggregation of depression. Second, we provide a review of the genome-wide association studies (GWAS) published to date. Building on GWAS findings, we will discuss the use of polygenic risk scores in predicting depression. We also review the most robust candidate gene studies and gene-by-environment interaction studies. Finally, we discuss the clinical implications of the findings and promising strategies for making further progress within this field.

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Allendorf, Fred W., W. Chris Funk, Sally N. Aitken, Margaret Byrne, and Gordon Luikart. "Quantitative Genetics." In Conservation and the Genomics of Populations. Oxford University Press, 2022. http://dx.doi.org/10.1093/oso/9780198856566.003.0011.

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Most phenotypic traits are the product of many genes as well as environmental effects, and the resulting phenotypic variation is quantitative rather than qualitative. The extent to which traits are under genetic control is termed heritability, and can be estimated by analyzing the phenotypic similarity of related individuals. Quantitative genetic approaches can be used to estimate population differentiation. Selection on quantitative traits produces changes in phenotypes as a function of the heritability, the intensity of selection, and the amount of phenotypic variation within a population. Human activities, such as size-limited harvesting and habitat degradation, can impose selection on natural populations and result in changes in phenotypes, and genetic drift in small populations can erode quantitative genetic variation. Genome-wide association studies can identify genes and markers associated with quantitative trait variation that can then be used to predict phenotypes from polygenic scores.

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Abdallah, Sarah B., and Thomas V. Fernandez. "Genetic Susceptibility in Tourette Syndrome." In Tourette Syndrome, 2nd ed., edited by Sarah B. Abdallah and Thomas V. Fernandez. Oxford University Press, 2022. http://dx.doi.org/10.1093/med/9780197543214.003.0009.

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Abstract Early twin and family studies point to a significant genetic contribution to Tourette syndrome (TS). Informed by early segregation analyses in TS families pointing to a single-gene autosomal dominant inheritance pattern with partial penetrance, initial efforts at gene discovery in TS utilized parametric linkage analysis in large multigenerational families but failed to identify a single specific genetic locus. Later segregation analyses supported the current characterization of TS as a complex, genetically heterogeneous disorder. Nonparametric linkage analyses have yet to identify common TS risk alleles. Candidate gene association studies in TS have not yielded significant reproducible findings. Genome-wide association studies (GWAS) have proven valuable for identifying and replicating loci for common complex traits and disorders across the medical field. A GWAS meta-analysis of almost 5,000 cases identified a significant locus in FLT3. Polygenic risk scores, calculated from the most recent TS GWAS summary statistics, have shown correlation with tic severity and affected status in independent samples. There has been an increasing effort to evaluate the contribution of rare allele variants toward TS. Recent studies have found a greater burden of rare copy number variants in TS cases; the largest study to date identified NRXN1 and CNTN6 as TS risk genes. Identifying rare de novo single nucleotide variants and indels in more than 800 parent–child trios has so far identified six likely TS risk genes (WWC1, CELSR3, OPA1, NIPBL, FN1, and FBN2), which present an enriched function for cell polarity.

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Conference papers on the topic "Genome-Wide polygenic score"

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Thomas, Minta, Lori C. Sakoda, Jeffrey K. Lee, et al. "Abstract 881: Benchmarking genome-wide polygenic risk score development techniques in colorectal cancer risk prediction." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-881.

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Darst, Burcu F., Ravi K. Madduri, Alexis A. Rodriguez, et al. "Abstract PO-163: Genome-wide polygenic risk score of prostate cancer in African and European ancestry men." In Abstracts: AACR Virtual Conference: 14th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; October 6-8, 2021. American Association for Cancer Research, 2022. http://dx.doi.org/10.1158/1538-7755.disp21-po-163.

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Reports on the topic "Genome-Wide polygenic score"

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Zeng, Yi, Huashuai Chen, Xiaomin Liu, et al. Sex differences in genetic associations with longevity in Han Chinese: sex-stratified genome-wide association study and polygenic risk score analysis. Max Planck Institute for Demographic Research, 2017. http://dx.doi.org/10.4054/mpidr-wp-2017-004.

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Sela, Hanan, Eduard Akhunov, and Brian J. Steffenson. Population genomics, linkage disequilibrium and association mapping of stripe rust resistance genes in wild emmer wheat, Triticum turgidum ssp. dicoccoides. United States Department of Agriculture, 2014. http://dx.doi.org/10.32747/2014.7598170.bard.

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The primary goals of this project were: (1) development of a genetically characterized association panel of wild emmer for high resolution analysis of the genetic basis of complex traits; (2) characterization and mapping of genes and QTL for seedling and adult plant resistance to stripe rust in wild emmer populations; (3) characterization of LD patterns along wild emmer chromosomes; (4) elucidation of the multi-locus genetic structure of wild emmer populations and its correlation with geo-climatic variables at the collection sites. Introduction In recent years, Stripe (yellow) rust (Yr) caused

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