Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

被引：108

作者：

Alves, Maria M. ^{[1
]}

Sribudiani, Yunia ^{[1
]}

Brouwer, Rutger W. W. ^{[2
,3
]}

Amiel, Jeanne ^{[4
,12
]}

Antinolo, Guillermo ^{[5
]}

Borrego, Salud ^{[5
]}

Ceccherini, Isabella ^{[6
]}

Chakravarti, Aravinda ^{[7
]}

Fernandez, Raquel M. ^{[5
]}

Garcia-Barcelo, Maria-Merce ^{[8
]}

Griseri, Paola ^{[6
]}

Lyonnet, Stanislas ^{[4
,12
]}

Tam, Paul K. ^{[8
]}

van IJcken, Wilfred F. J. ^{[2
]}

Eggen, Bart J. L. ^{[9
]}

te Meerman, Gerard J. ^{[10
]}

Hofstra, Robert M. W. ^{[1
,11
]}

机构：

[1] Dept Clin Genet, Rotterdam, Netherlands

[2] Erasmus Univ, Med Ctr, Ctr Biom, Dept Cell Biol, NL-3015 GE Rotterdam, Netherlands

[3] NBIC, Nijmegen, Netherlands

[4] Hop Necker Enfants Malad, AP HP, INSERM, U781, Paris, France

[5] Univ Seville, Univ Hosp Virgen Rocio, CSIC, Inst Biomed Seville IBIS,Dept Genet Reprod & Feta, Seville, Spain

[6] Inst Giannina Gaslini, Lab Genet Mol, Genoa, Italy

[7] Univ Hong Kong, Dept Surg, Hong Kong, Hong Kong, Peoples R China

[8] Johns Hopkins Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[9] Univ Groningen, Univ Med Ctr Groningen, Dept Neurosci, Med Physiol Sect, Groningen, Netherlands

[10] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[11] UCL, Inst Child Hlth, Neural Dev Unit, London, England

[12] Univ Paris 05, Inst Imagine, Paris, France

来源：

DEVELOPMENTAL BIOLOGY | 2013年 / 382卷 / 01期

关键词：

Hirschsprung disease; Rare variants; GWAS; Next generation sequencing; Systems biology; Functional assays; GENOME-WIDE ASSOCIATION; SMAD-INTERACTING PROTEIN-1; RECEPTOR TYROSINE KINASE; RET PROTOONCOGENE; NEURAL CREST; ENDOTHELIN-3; GENE; MULTIGENIC INHERITANCE; SUSCEPTIBILITY LOCUS; GERMLINE MUTATIONS; MENTAL-RETARDATION;

D O I：

10.1016/j.ydbio.2013.05.019

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Finding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations in rare familial cases, by screening candidate genes and by performing genome wide association studies. However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated genetic loci. In this review we focus on Hirschsprung disease (HSCR) as an example of a complex genetic disorder. We describe the genes identified in this congenital malformation and postulate that both common 'low penetrant' variants in combination with rare or private 'high penetrant' variants determine the risk on HSCR, and likely, on other complex diseases. We also discuss how new technological advances can be used to gain further insights in the genetic background of complex diseases. Finally, we outline a few steps to develop functional assays in order to determine the involvement of these variants in disease development. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：320 / 329

页数：10

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