Literature DB >> 30922659

Progress in Polygenic Composite Scores in Alzheimer's and Other Complex Diseases.

Danai Chasioti1, Jingwen Yan2, Kwangsik Nho3, Andrew J Saykin4.   

Abstract

Advances in high-throughput genotyping and next-generation sequencing (NGS) coupled with larger sample sizes brings the realization of precision medicine closer than ever. Polygenic approaches incorporating the aggregate influence of multiple genetic variants can contribute to a better understanding of the genetic architecture of many complex diseases and facilitate patient stratification. This review addresses polygenic concepts, methodological developments, hypotheses, and key issues in study design. Polygenic risk scores (PRSs) have been applied to many complex diseases and here we focus on Alzheimer's disease (AD) as a primary exemplar. This review was designed to serve as a starting point for investigators wishing to use PRSs in their research and those interested in enhancing clinical study designs through enrichment strategies.
Copyright © 2019 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Alzheimer’s disease; heritability; linkage disequilibrium; polygenic hazard score; polygenic risk score; statistical power

Mesh：

Year:  2019        PMID： 30922659      PMCID： PMC6475476          DOI： 10.1016/j.tig.2019.02.005

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  80 in total

1.  The association between a polygenic Alzheimer score and cortical thickness in clinically normal subjects.

Authors:  Mert R Sabuncu; Randy L Buckner; Jordan W Smoller; Phil Hyoun Lee; Bruce Fischl; Reisa A Sperling
Journal:  Cereb Cortex       Date:  2011-12-13       Impact factor: 5.357

2.  Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score.

Authors:  Philip L De Jager; Lori B Chibnik; Jing Cui; Joachim Reischl; Stephan Lehr; K Claire Simon; Cristin Aubin; David Bauer; Jürgen F Heubach; Rupert Sandbrink; Michaela Tyblova; Petra Lelkova; Eva Havrdova; Christoph Pohl; Dana Horakova; Alberto Ascherio; David A Hafler; Elizabeth W Karlson
Journal:  Lancet Neurol       Date:  2009-10-29       Impact factor: 44.182

3.  A Lasso multi-marker mixed model for association mapping with population structure correction.

Authors:  Barbara Rakitsch; Christoph Lippert; Oliver Stegle; Karsten Borgwardt
Journal:  Bioinformatics       Date:  2012-11-22       Impact factor: 6.937

4.  Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk.

Authors:  Elizabeth W Karlson; Lori B Chibnik; Peter Kraft; Jing Cui; Brendan T Keenan; Bo Ding; Souyma Raychaudhuri; Lars Klareskog; Lars Alfredsson; Robert M Plenge
Journal:  Ann Rheum Dis       Date:  2010-03-16       Impact factor: 19.103

5.  Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci.

Authors:  Gillian K Reeves; Ruth C Travis; Jane Green; Diana Bull; Sarah Tipper; Krys Baker; Valerie Beral; Richard Peto; John Bell; Diana Zelenika; Mark Lathrop
Journal:  JAMA       Date:  2010-07-28       Impact factor: 56.272

6.  A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.

Authors:  Samuli Ripatti; Emmi Tikkanen; Marju Orho-Melander; Aki S Havulinna; Kaisa Silander; Amitabh Sharma; Candace Guiducci; Markus Perola; Antti Jula; Juha Sinisalo; Marja-Liisa Lokki; Markku S Nieminen; Olle Melander; Veikko Salomaa; Leena Peltonen; Sekar Kathiresan
Journal:  Lancet       Date:  2010-10-23       Impact factor: 79.321

7.  Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.

Authors:  Marilyn C Cornelis; Lu Qi; Cuilin Zhang; Peter Kraft; JoAnn Manson; Tianxi Cai; David J Hunter; Frank B Hu
Journal:  Ann Intern Med       Date:  2009-04-21       Impact factor: 25.391

8.  Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease.

Authors:  E Rodríguez-Rodríguez; P Sánchez-Juan; J L Vázquez-Higuera; I Mateo; A Pozueta; J Berciano; S Cervantes; D Alcolea; P Martínez-Lage; J Clarimón; A Lleó; P Pastor; O Combarros
Journal:  J Neural Transm (Vienna)       Date:  2012-11-20       Impact factor: 3.575

9.  Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.

Authors:  Shaun M Purcell; Naomi R Wray; Jennifer L Stone; Peter M Visscher; Michael C O'Donovan; Patrick F Sullivan; Pamela Sklar
Journal:  Nature       Date:  2009-07-01       Impact factor: 49.962

10.  Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.

Authors:  S Hong Lee; Denise Harold; Dale R Nyholt; Michael E Goddard; Krina T Zondervan; Julie Williams; Grant W Montgomery; Naomi R Wray; Peter M Visscher
Journal:  Hum Mol Genet       Date:  2012-11-28       Impact factor: 6.150
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  22 in total

1.  Polygenic Scores of Alzheimer's Disease Risk Genes Add Only Modestly to APOE in Explaining Variation in Amyloid PET Burden.

Authors:  Vijay K Ramanan; Michael G Heckman; Scott A Przybelski; Timothy G Lesnick; Val J Lowe; Jonathan Graff-Radford; M Mielke; Clifford R Jack; David S Knopman; Ronald C Petersen; Owen A Ross; Prashanthi Vemuri
Journal:  J Alzheimers Dis       Date:  2022       Impact factor: 4.160

2.  Tau polygenic risk scoring: a cost-effective aid for prognostic counseling in Alzheimer's disease.

Authors:  Vijay K Ramanan; Michael G Heckman; Timothy G Lesnick; Scott A Przybelski; Elliot J Cahn; Matthew L Kosel; Melissa E Murray; Michelle M Mielke; Hugo Botha; Jonathan Graff-Radford; David T Jones; Val J Lowe; Mary M Machulda; Clifford R Jack; David S Knopman; Ronald C Petersen; Owen A Ross; Prashanthi Vemuri
Journal:  Acta Neuropathol       Date:  2022-04-12       Impact factor: 15.887

3.  Brain Imaging Genomics: Integrated Analysis and Machine Learning.

Authors:  Li Shen; Paul M Thompson
Journal:  Proc IEEE Inst Electr Electron Eng       Date:  2019-10-29       Impact factor: 10.961

Review 4.  Genetic prediction of complex traits with polygenic scores: a statistical review.

Authors:  Ying Ma; Xiang Zhou
Journal:  Trends Genet       Date:  2021-07-06       Impact factor: 11.639

5.  Polygenic mediation analysis of Alzheimer's disease implicated intermediate amyloid imaging phenotypes.

Authors:  Eng Yingxuan; Xiaohui Yao; Kefei Liu; Shannon L Risacher; Andrew J Saykin; Qi Long; Yize Zhao; Li Shen
Journal:  AMIA Annu Symp Proc       Date:  2021-01-25

Review 6.  The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.

Authors:  Peter T Nelson; David W Fardo; Yuriko Katsumata
Journal:  J Neuropathol Exp Neurol       Date:  2020-06-01       Impact factor: 3.685

7.  Effects of polygenic risk for Alzheimer's disease on rate of cognitive decline in normal aging.

Authors:  Karolina Kauppi; Michael Rönnlund; Annelie Nordin Adolfsson; Sara Pudas; Rolf Adolfsson
Journal:  Transl Psychiatry       Date:  2020-07-24       Impact factor: 6.222

8.  Interplay between stress-related genes may influence Alzheimer's disease development: The results of genetic interaction analyses of human data.

Authors:  Anatoliy I Yashin; Deqing Wu; Konstantin Arbeev; Olivia Bagley; Igor Akushevich; Matt Duan; Arseniy Yashkin; Svetlana Ukraintseva
Journal:  Mech Ageing Dev       Date:  2021-03-30       Impact factor: 5.498

9.  Mitonuclear interactions influence Alzheimer's disease risk.

Authors:  Shea J Andrews; Brian Fulton-Howard; Christopher Patterson; G Peggy McFall; Alden Gross; Elias K Michaelis; Alison Goate; Russell H Swerdlow; Judy Pa
Journal:  Neurobiol Aging       Date:  2019-09-24       Impact factor: 4.673

10.  A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Authors:  Luis G Leal; Clive Hoggart; Marjo-Riitta Jarvelin; Karl-Heinz Herzig; Michael J E Sternberg; Alessia David
Journal:  Mol Genet Genomic Med       Date:  2020-04-19       Impact factor: 2.183
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