Literature DB >> 33478553

What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

Jeanette Erdmann1.   

Abstract

The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.

Entities:  

Keywords:  Col VI-CMD; Collagen VI congenital muscular dystrophy; Late-onset risk; PheWAS; Unexpected phenotypes

Mesh：

Year:  2021        PMID： 33478553      PMCID： PMC7818908          DOI： 10.1186/s13023-021-01684-w

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN： 1750-1172            Impact factor:   4.123


  24 in total

1.  Forty-five years to diagnosis.

Authors:  Jeanette Erdmann; Heribert Schunkert
Journal:  Neuromuscul Disord       Date:  2013-04-25       Impact factor: 4.296

Review 2.  Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Authors:  Marina Cerrone; Carol Ann Remme; Rafik Tadros; Connie R Bezzina; Mario Delmar
Journal:  Circulation       Date:  2019-08-12       Impact factor: 29.690

Review 3.  Phenome-wide association studies: a new method for functional genomics in humans.

Authors:  Dan M Roden
Journal:  J Physiol       Date:  2017-03-26       Impact factor: 5.182

4.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Authors:  Joshua C Denny; Marylyn D Ritchie; Melissa A Basford; Jill M Pulley; Lisa Bastarache; Kristin Brown-Gentry; Deede Wang; Dan R Masys; Dan M Roden; Dana C Crawford
Journal:  Bioinformatics       Date:  2010-03-24       Impact factor: 6.937

5.  Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.

Authors:  Siamak Karkheiran; Catharine E Krebs; Vladimir Makarov; Yalda Nilipour; Benjamin Hubert; Hossein Darvish; Steven Frucht; Gholam Ali Shahidi; Joseph D Buxbaum; Coro Paisán-Ruiz
Journal:  Hum Genet       Date:  2012-11-09       Impact factor: 4.132

6.  Endotrophin, a multifaceted player in metabolic dysregulation and cancer progression, is a predictive biomarker for the response to PPARγ agonist treatment.

Authors:  Kai Sun; Jiyoung Park; Min Kim; Philipp E Scherer
Journal:  Diabetologia       Date:  2016-10-07       Impact factor: 10.122

7.  A global overview of pleiotropy and genetic architecture in complex traits.

Authors:  Kyoko Watanabe; Sven Stringer; Oleksandr Frei; Maša Umićević Mirkov; Christiaan de Leeuw; Tinca J C Polderman; Sophie van der Sluis; Ole A Andreassen; Benjamin M Neale; Danielle Posthuma
Journal:  Nat Genet       Date:  2019-08-19       Impact factor: 38.330

8.  Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Authors:  Michael Zech; Daniel D Lam; Ludmila Francescatto; Barbara Schormair; Aaro V Salminen; Angela Jochim; Thomas Wieland; Peter Lichtner; Annette Peters; Christian Gieger; Hanns Lochmüller; Tim M Strom; Bernhard Haslinger; Nicholas Katsanis; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025

9.  A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.

Authors:  Joseph Park; Michael G Levin; Christopher M Haggerty; Dustin N Hartzel; Renae Judy; Rachel L Kember; Nosheen Reza; Marylyn D Ritchie; Anjali T Owens; Scott M Damrauer; Daniel J Rader
Journal:  Genet Med       Date:  2019-08-06       Impact factor: 8.822

10.  The UK Biobank resource with deep phenotyping and genomic data.

Authors:  Clare Bycroft; Colin Freeman; Desislava Petkova; Gavin Band; Lloyd T Elliott; Kevin Sharp; Allan Motyer; Damjan Vukcevic; Olivier Delaneau; Jared O'Connell; Adrian Cortes; Samantha Welsh; Alan Young; Mark Effingham; Gil McVean; Stephen Leslie; Naomi Allen; Peter Donnelly; Jonathan Marchini
Journal:  Nature       Date:  2018-10-10       Impact factor: 49.962
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