Literature DB >> 33633722

Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases.

Matthias Hübenthal1, Britt-Sabina Löscher2, Jeanette Erdmann3, Andre Franke2, Damian Gola4, Inke R König4, Hila Emmert1.   

Abstract

In this mini-review, we highlight selected research by the Deutsche Forschungsgemeinschaft (DFG) Cluster of Excellence "Precision Medicine in Chronic Inflammation" focusing on clinical sequencing and the clinical utility of polygenic risk scores as well as its implication on precision medicine in the field of the inflammatory diseases inflammatory bowel disease, atopic dermatitis and coronary artery disease. Additionally, we highlight current developments and discuss challenges to be faced in the future. Exemplary, we point to residual challenges in detecting disease-relevant variants resulting from difficulties in the interpretation of candidate variants and their potential interactions. While polygenic risk scores represent promising tools for the stratification of patient groups, currently, polygenic risk scores are not accurate enough for clinical setting. Precision medicine, incorporating additional data from genomics, transcriptomics and proteomics experiments, may enable the identification of distinct disease pathogeneses. In the future, data-intensive biomedical innovation will hopefully lead to improved patient stratification for personalized medicine.
Copyright © 2021 Hübenthal, Löscher, Erdmann, Franke, Gola, König and Emmert.

Entities:  

Keywords:  atopic dermatitis; coronary artery disease; genome-wide association studies; inflammation; inflammatory bowel disease; polygenic risk score; whole-exome sequencing

Year:  2021        PMID: 33633722      PMCID: PMC7901950          DOI: 10.3389/fimmu.2020.577677

Source DB:  PubMed          Journal:  Front Immunol        ISSN: 1664-3224            Impact factor:   7.561


  79 in total

1.  A genetic risk score of 45 coronary artery disease risk variants associates with increased risk of myocardial infarction in 6041 Danish individuals.

Authors:  N T Krarup; A Borglykke; K H Allin; C H Sandholt; J M Justesen; E A Andersson; N Grarup; T Jørgensen; O Pedersen; T Hansen
Journal:  Atherosclerosis       Date:  2015-03-16       Impact factor: 5.162

2.  Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.

Authors:  Eun Suk Jung; Britt-Sabina Petersen; Gabriele Mayr; Jae Hee Cheon; Yunkoo Kang; Seok Joo Lee; Xiumei Che; Won Ho Kim; Seung Kim; Stefan Schreiber; Andre Franke; Hong Koh
Journal:  Eur J Gastroenterol Hepatol       Date:  2018-12       Impact factor: 2.566

Review 3.  IL-10 and IL-10 receptor defects in humans.

Authors:  Erik-Oliver Glocker; Daniel Kotlarz; Christoph Klein; Neil Shah; Bodo Grimbacher
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

4.  Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Authors:  Karin R Engelhardt; Neil Shah; Intan Faizura-Yeop; Dilara F Kocacik Uygun; Natalie Frede; Aleixo M Muise; Eyal Shteyer; Serkan Filiz; Ronnie Chee; Mamoun Elawad; Britta Hartmann; Peter D Arkwright; Christopher Dvorak; Christoph Klein; Jennifer M Puck; Bodo Grimbacher; Erik-Oliver Glocker
Journal:  J Allergy Clin Immunol       Date:  2012-11-14       Impact factor: 10.793

5.  Assessment of the clinical utility of adding common single nucleotide polymorphism genetic scores to classical risk factor algorithms in coronary heart disease risk prediction in UK men.

Authors:  Katherine E Beaney; Jackie A Cooper; Fotios Drenos; Steve E Humphries
Journal:  Clin Chem Lab Med       Date:  2017-08-28       Impact factor: 3.694

6.  A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Authors:  Stephan Weidinger; Saffron A G Willis-Owen; Yoichiro Kamatani; Hansjörg Baurecht; Nilesh Morar; Liming Liang; Pauline Edser; Teresa Street; Elke Rodriguez; Grainne M O'Regan; Paula Beattie; Regina Fölster-Holst; Andre Franke; Natalija Novak; Caoimhe M Fahy; Mårten C G Winge; Michael Kabesch; Thomas Illig; Simon Heath; Cilla Söderhäll; Erik Melén; Göran Pershagen; Juha Kere; Maria Bradley; Agne Lieden; Magnus Nordenskjold; John I Harper; W H Irwin McLean; Sara J Brown; William O C Cookson; G Mark Lathrop; Alan D Irvine; Miriam F Moffatt
Journal:  Hum Mol Genet       Date:  2013-07-25       Impact factor: 6.150

7.  Higher Polygenetic Predisposition for Asthma in Cow's Milk Allergic Children.

Authors:  Philip R Jansen; Nicole C M Petrus; Andrea Venema; Danielle Posthuma; Marcel M A M Mannens; Aline B Sprikkelman; Peter Henneman
Journal:  Nutrients       Date:  2018-10-27       Impact factor: 5.717

8.  A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.

Authors:  Jorge Esparza-Gordillo; Heidi Schaarschmidt; Liming Liang; William Cookson; Anja Bauerfeind; Min-Ae Lee-Kirsch; Katja Nemat; John Henderson; Lavinia Paternoster; John I Harper; Elisabeth Mangold; Markus M Nothen; Franz Rüschendorf; Tamara Kerscher; Ingo Marenholz; Anja Matanovic; Susanne Lau; Thomas Keil; Carl-Peter Bauer; Michael Kurek; Andrzej Ciechanowicz; Milan Macek; Andre Franke; Michael Kabesch; Norbert Hubner; Gonçalo Abecasis; Stephan Weidinger; Miriam Moffatt; Young-Ae Lee
Journal:  J Allergy Clin Immunol       Date:  2013-04-09       Impact factor: 10.793

9.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Authors:  Luke Jostins; Stephan Ripke; Rinse K Weersma; Richard H Duerr; Dermot P McGovern; Ken Y Hui; James C Lee; L Philip Schumm; Yashoda Sharma; Carl A Anderson; Jonah Essers; Mitja Mitrovic; Kaida Ning; Isabelle Cleynen; Emilie Theatre; Sarah L Spain; Soumya Raychaudhuri; Philippe Goyette; Zhi Wei; Clara Abraham; Jean-Paul Achkar; Tariq Ahmad; Leila Amininejad; Ashwin N Ananthakrishnan; Vibeke Andersen; Jane M Andrews; Leonard Baidoo; Tobias Balschun; Peter A Bampton; Alain Bitton; Gabrielle Boucher; Stephan Brand; Carsten Büning; Ariella Cohain; Sven Cichon; Mauro D'Amato; Dirk De Jong; Kathy L Devaney; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Lynnette R Ferguson; Denis Franchimont; Karin Fransen; Richard Gearry; Michel Georges; Christian Gieger; Jürgen Glas; Talin Haritunians; Ailsa Hart; Chris Hawkey; Matija Hedl; Xinli Hu; Tom H Karlsen; Limas Kupcinskas; Subra Kugathasan; Anna Latiano; Debby Laukens; Ian C Lawrance; Charlie W Lees; Edouard Louis; Gillian Mahy; John Mansfield; Angharad R Morgan; Craig Mowat; William Newman; Orazio Palmieri; Cyriel Y Ponsioen; Uros Potocnik; Natalie J Prescott; Miguel Regueiro; Jerome I Rotter; Richard K Russell; Jeremy D Sanderson; Miquel Sans; Jack Satsangi; Stefan Schreiber; Lisa A Simms; Jurgita Sventoraityte; Stephan R Targan; Kent D Taylor; Mark Tremelling; Hein W Verspaget; Martine De Vos; Cisca Wijmenga; David C Wilson; Juliane Winkelmann; Ramnik J Xavier; Sebastian Zeissig; Bin Zhang; Clarence K Zhang; Hongyu Zhao; Mark S Silverberg; Vito Annese; Hakon Hakonarson; Steven R Brant; Graham Radford-Smith; Christopher G Mathew; John D Rioux; Eric E Schadt; Mark J Daly; Andre Franke; Miles Parkes; Severine Vermeire; Jeffrey C Barrett; Judy H Cho
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

10.  Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases.

Authors:  Tobias L Lenz; Aaron J Deutsch; Buhm Han; Xinli Hu; Yukinori Okada; Stephen Eyre; Michael Knapp; Alexandra Zhernakova; Tom W J Huizinga; Gonçalo Abecasis; Jessica Becker; Guy E Boeckxstaens; Wei-Min Chen; Andre Franke; Dafna D Gladman; Ines Gockel; Javier Gutierrez-Achury; Javier Martin; Rajan P Nair; Markus M Nöthen; Suna Onengut-Gumuscu; Proton Rahman; Solbritt Rantapää-Dahlqvist; Philip E Stuart; Lam C Tsoi; David A van Heel; Jane Worthington; Mira M Wouters; Lars Klareskog; James T Elder; Peter K Gregersen; Johannes Schumacher; Stephen S Rich; Cisca Wijmenga; Shamil R Sunyaev; Paul I W de Bakker; Soumya Raychaudhuri
Journal:  Nat Genet       Date:  2015-08-10       Impact factor: 38.330

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