Literature DB >> 12920061

New approaches to investigating heterogeneity in complex traits.

R Bomprezzi1, P E Kovanen, R Martin.   

Abstract

Great advances in the field of genetics have been made in the last few years. However, resolving the complexity that underlies the susceptibility to many polygenic human diseases remains a major challenge to researchers. The fast increase in availability of genetic data and the better understanding of the clinical and pathological heterogeneity of many autoimmune diseases such as multiple sclerosis, but also Parkinson's disease, Alzheimer's disease, and many more, have changed our views on their pathogenesis and diagnosis, and begins to influence clinical management. At the same time, more powerful methods that allow the analysis of large numbers of genes and proteins simultaneously open opportunities to examine their complex interactions. Using multiple sclerosis as a prototype, we review here how new methodologies such as gene expression profiling can be exploited to gain insight into complex trait diseases.

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Year:  2003        PMID: 12920061      PMCID: PMC1735544          DOI: 10.1136/jmg.40.8.553

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  88 in total

1.  Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.

Authors:  Kirk E Lohmueller; Celeste L Pearce; Malcolm Pike; Eric S Lander; Joel N Hirschhorn
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2.  Sex differences in in vitro pro-inflammatory cytokine production from peripheral blood of multiple sclerosis patients.

Authors:  Linh T Nguyen; Murali Ramanathan; Bianca Weinstock-Guttman; Monika Baier; Carol Brownscheidle; Lawrence D Jacobs
Journal:  J Neurol Sci       Date:  2003-05-15       Impact factor: 3.181

3.  The British Isles survey of multiple sclerosis in twins.

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Journal:  Neurology       Date:  1994-01       Impact factor: 9.910

4.  A population-based study of multiple sclerosis in twins: update.

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Journal:  Ann Neurol       Date:  1993-03       Impact factor: 10.422

5.  The transmission/disequilibrium test: history, subdivision, and admixture.

Authors:  W J Ewens; R S Spielman
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

Review 6.  Genetic dissection of complex traits.

Authors:  E S Lander; N J Schork
Journal:  Science       Date:  1994-09-30       Impact factor: 47.728

7.  Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

Authors:  N Abbadi; C Philippe; M Chery; H Gilgenkrantz; F Tome; H Collin; D Theau; D Recan; O Broux; M Fardeau
Journal:  Am J Med Genet       Date:  1994-08-15

8.  Lower levels of N-acetylaspartate in multiple sclerosis patients with the apolipoprotein E epsilon4 allele.

Authors:  Christian Enzinger; Stefan Ropele; Siegrid Strasser-Fuchs; Peter Kapeller; Helena Schmidt; Birgit Poltrum; Reinhold Schmidt; Hans-Peter Hartung; Franz Fazekas
Journal:  Arch Neurol       Date:  2003-01

9.  Individuality and variation in gene expression patterns in human blood.

Authors:  Adeline R Whitney; Maximilian Diehn; Stephen J Popper; Ash A Alizadeh; Jennifer C Boldrick; David A Relman; Patrick O Brown
Journal:  Proc Natl Acad Sci U S A       Date:  2003-02-10       Impact factor: 11.205

Review 10.  Retinoblastoma: clues to human oncogenesis.

Authors:  A L Murphree; W F Benedict
Journal:  Science       Date:  1984-03-09       Impact factor: 47.728

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  7 in total

Review 1.  Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.

Authors:  Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon-Thomsen; Jean Jacques Cassiman; Gerry Evers-Kiebooms; Shirley Hodgson; A Cécile J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros; Lisbeth Tranebjaerg; Irene M van Langen; Helen Wallace; Ron Zimmern; Jörg Schmidtke; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2011-04       Impact factor: 4.246

2.  Replication study of GWAS risk loci in Greek multiple sclerosis patients.

Authors:  Georgios M Hadjigeorgiou; Persia-Maria Kountra; Georgios Koutsis; Vana Tsimourtou; Vasileios Siokas; Maria Dardioti; Dimitrios Rikos; Chrysoula Marogianni; Athina-Maria Aloizou; Georgia Karadima; Styliani Ralli; Nikolaos Grigoriadis; Dimitrios Bogdanos; Marios Panas; Efthimios Dardiotis
Journal:  Neurol Sci       Date:  2018-10-26       Impact factor: 3.307

3.  The challenge of implementing genetic tests with clinical utility while avoiding unsound applications.

Authors:  Martina C Cornel; Carla G van El; Pascal Borry
Journal:  J Community Genet       Date:  2012-10-09

Review 4.  A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches.

Authors:  V V Bashinskaya; O G Kulakova; A N Boyko; A V Favorov; O O Favorova
Journal:  Hum Genet       Date:  2015-09-25       Impact factor: 4.132

5.  Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.

Authors:  Antonio Alcina; Maria Fedetz; Oscar Fernández; Albert Saiz; Guillermo Izquierdo; Miguel Lucas; Laura Leyva; Juan-Antonio García-León; María Del Mar Abad-Grau; Iraide Alloza; Alfredo Antigüedad; María J Garcia-Barcina; Koen Vandenbroeck; Jezabel Varadé; Belén de la Hera; Rafael Arroyo; Manuel Comabella; Xavier Montalban; Natalia Petit-Marty; Arcadi Navarro; David Otaegui; Javier Olascoaga; Yolanda Blanco; Elena Urcelay; Fuencisla Matesanz
Journal:  J Med Genet       Date:  2012-11-17       Impact factor: 6.318

6.  Three allele combinations associated with multiple sclerosis.

Authors:  Olga O Favorova; Alexander V Favorov; Alexey N Boiko; Timofey V Andreewski; Marina A Sudomoina; Alexey D Alekseenkov; Olga G Kulakova; Eugenyi I Gusev; Giovanni Parmigiani; Michael F Ochs
Journal:  BMC Med Genet       Date:  2006-07-26       Impact factor: 2.103

7.  Common gene-network signature of different neurological disorders and their potential implications to neuroAIDS.

Authors:  Vidya Sagar; S Pilakka-Kanthikeel; Paola C Martinez; V S R Atluri; M Nair
Journal:  PLoS One       Date:  2017-08-08       Impact factor: 3.240

  7 in total

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