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[Multifactorial diseases: a nightmare for the geneticist].
Med Sci (Paris) 2005; 21(11):927-33MS

Abstract

Common diseases are often familial, but they do not show in most families, a simple pattern of inheritance. In a few families these diseases may be caused by a mutation in a single gene. In most families these diseases are multifactorial, they result from a complex interaction between a genetic component which is often polygenic and many environmental factors. Two major, model free, methods are used to locate and identify susceptibility genes that predispose to multifactorial diseases. The first is a non parametric linkage analysis that relies on affected sib pairs, or an affected pedigree member, the second method is association studies which looks for increase frequency of particular alleles or genotypes in affected compared with unaffected individuals in the population. Most of the results have not been replicated, identifying susceptibility genes is proving much more difficult than most geneticists imagined 20 years ago. The main reason for this irreproducibility is genetic heterogeneity.

Authors+Show Affiliations

Inserm U.393, Hôpital Necker Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France. aosaka@cochin.inserm.fr

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

16274643

Citation

Feingold, Josué. "[Multifactorial Diseases: a Nightmare for the Geneticist]." Medecine Sciences : M/S, vol. 21, no. 11, 2005, pp. 927-33.
Feingold J. [Multifactorial diseases: a nightmare for the geneticist]. Med Sci (Paris). 2005;21(11):927-33.
Feingold, J. (2005). [Multifactorial diseases: a nightmare for the geneticist]. Medecine Sciences : M/S, 21(11), pp. 927-33.
Feingold J. [Multifactorial Diseases: a Nightmare for the Geneticist]. Med Sci (Paris). 2005;21(11):927-33. PubMed PMID: 16274643.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Multifactorial diseases: a nightmare for the geneticist]. A1 - Feingold,Josué, PY - 2005/11/9/pubmed PY - 2006/3/31/medline PY - 2005/11/9/entrez SP - 927 EP - 33 JF - Medecine sciences : M/S JO - Med Sci (Paris) VL - 21 IS - 11 N2 - Common diseases are often familial, but they do not show in most families, a simple pattern of inheritance. In a few families these diseases may be caused by a mutation in a single gene. In most families these diseases are multifactorial, they result from a complex interaction between a genetic component which is often polygenic and many environmental factors. Two major, model free, methods are used to locate and identify susceptibility genes that predispose to multifactorial diseases. The first is a non parametric linkage analysis that relies on affected sib pairs, or an affected pedigree member, the second method is association studies which looks for increase frequency of particular alleles or genotypes in affected compared with unaffected individuals in the population. Most of the results have not been replicated, identifying susceptibility genes is proving much more difficult than most geneticists imagined 20 years ago. The main reason for this irreproducibility is genetic heterogeneity. SN - 0767-0974 UR - https://www.unboundmedicine.com/medline/citation/16274643/[Multifactorial_diseases:_a_nightmare_for_the_geneticist]_ L2 - http://publications.edpsciences.org/10.1051/medsci/20052111927 DB - PRIME DP - Unbound Medicine ER -