The Future of Genetic Studies of Complex Human Diseases

  title={The Future of Genetic Studies of Complex Human Diseases},
  author={Neil Risch and Kathleen R. Merikangas},
  pages={1516 - 1517}
The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult. In their Perspective, Risch and Merikangas propose that we can best accomplish this goal by combining the power of the human genome project with association studies, a method for determining the basis of a genetic disease. 
Interpretation of genetic association studies in complex disease
The very large number of genetic variants in the human genome and the lack of detailed knowledge about the molecular and biochemical processes involved in aetiology of complex diseases or in drug response suggest that many spurious associations will be found and reported.
Medical implications of understanding complex disease traits.
  • J. Bell
  • Biology, Medicine
    Current opinion in biotechnology
  • 1998
Mapping complex disease loci in whole-genome association studies
Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.
Strategies in complex disease mapping.
The future of psychiatric genetics
The difficulties that complex diseases pose to genetic research are considered, progress is discussed and suggestions regarding future directions are made.
The usefulness of single nucleotide polymorphisms (SNPs) for genetic epidemiological investigation of complex psychiatric diseases
  • B. Müller-Myhsok
  • Biology
    Progress in Neuro-Psychopharmacology and Biological Psychiatry
  • 2005
Genetic Mapping in Human Disease
The intellectual foundations of genetic mapping of Mendelian and complex traits in humans are discussed, lessons emerging from linkage analysis of MendELian diseases and genome-wide association studies of common diseases are examined, and questions and challenges that lie ahead are discussed.
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits.
The lessons learned from an extensive body of evidence on the division of diabetes into different subtypes based on clinical phenotype are used to illustrate general implications for the genetic analysis of complex traits.
Approaches for Dissection of the Genetic Basis of Complex Disease Development in Human
The purpose of the book is to provide a glimpse into the dynamic process of genetic diversity of microorganisms by presenting the thoughts of scientists who are engaged in the generation of new ideas
Genetic susceptibility and single-nucleotide polymorphisms.
  • N. Hanchard
  • Biology
    Seminars in fetal & neonatal medicine
  • 2005


Genetic dissection of complex traits.
This article synthesizes the current state of the genetic dissection of complex traits--describing the methods, limitations, and recent applications to biological problems.
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).
The statistical basis for this "transmission test for linkage disequilibrium" (transmission/disequilibrium test] is described and the relationship of this test to tests of cosegregation that are based on the proportion of haplotypes or genes identical by descent in affected sibs is shown.
Assessing the role of HLA-linked and unlinked determinants of disease.
  • N. Risch
  • Biology
    American journal of human genetics
  • 1987
A single-locus model of disease susceptibility is rejected, implying the existence of additional unlinked familial determinants, and the relationship between increased risk in relatives over population prevalence and probability of sharing zero marker alleles identical by descent at a linked locus by an affected relative pair is examined.
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
  • N. Risch
  • Biology
    American journal of human genetics
  • 1990
The power to detect disease-susceptibility loci through linkage analysis using pairs of affected relatives and affected-unaffected pairs is examined and simultaneous use of multiple markers diminishes the effect of recombination and allows for localization of the disease-magnifying locus.
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