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PMID: 18784943 Published · ppublish English Journal Article Review

Identifying modifier genes of monogenic disease: strategies and difficulties.

Human genetics ·Vol. 124 ·No. 4 ·2008-11-00 ·Pages 357-68

Génin E, Feingold J, Clerget-Darpoux F

Abstract

Substantial clinical variability is observed in many Mendelian diseases, so that patients with the same mutation may develop a very severe form of disease, a mild form or show no symptoms at all. Among the factors that may explain these differences in disease expression are modifier genes. In this paper, we review the different strategies that can be used to identify modifier genes and explain their advantages and limitations. We focus mainly on the statistical aspects but illustrate our points with a variety of examples from the literature.

MeSH Terms
Genes/physiology Genetic Diseases, Inborn/genetics Genetic Linkage Genetic Predisposition to Disease Humans Mutant Proteins/genetics Phenotype
Chemicals
Mutant Proteins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Génin Emmanuelle
Inserm UMR-S535, 94817, Villejuif, France.
Feingold Josué
Clerget-Darpoux Françoise
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
1432-1203
DOI
10.1007/s00439-008-0560-2
Published
2008-11-00
Epub
2008-00-11
Pages
357-68
Language
English
Region
Germany
NLM ID
7613873
PMCID
PMC2911473
Subset
IM
External Links
PubMed source DOI: 10.1007/s00439-008-0560-2 PMC Full Text View journal details
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