How many diseases does it take to map a gene with SNPs?

  title={How many diseases does it take to map a gene with SNPs?},
  author={Kenneth M. Weiss and Joseph D. Terwilliger},
  journal={Nature Genetics},
“They all talked at once, their voices insistent and contradictory and impatient, making of unreality a possibility, then a probability, then an incontrovertible fact, as people will when their desires become words.” —W. Faulkner, The Sound and the Fury, 1929 
Complex genetic diseases: controversy over the Croesus code
The polarization of views on how best to exploit new information from the Human Genome Project for medicine reflects our ignorance of the genetic architecture underlying common diseases: are
Opinion: The balance between heritable and environmental aetiology of human disease
Using cancer as an example of complex disease, the scientific evidence for the hypothesis that human diseases result from interactions between genetic variants and the environment is examined.
Guilt by association
Progress is reported by Bell and colleagues in their study of NIDDM1, a locus implicated in type 2 diabetes, a complex nature of the reported association illustrates the challenge of implicating a specific gene and mutation in the causation of polygenic disease.
The New Epidemiology: putting the pieces together in complex disease aetiology.
  • L. Palmer
  • Biology
    International journal of epidemiology
  • 2004
Large-scale, population-based human samples are becoming increasingly available and dramatic progress is occurring in molecular genetic technologies forevaluating the polymorphic sites in human samples within decreasing efficiency and decreasing cost.
Shastry SNP alleles in human disease and evolution
information and how to take advantage of this effort. The majority of them believe that one possible benefit of this information is to use it to understand the genetic basis of the most common
Putting the genes for type II diabetes on the map
How The Human Genome Project will revolutionize the diagnosis and treatment of diseases including diabetes, asthma, cancer, autoimmunity and cardiac disease, as well as the potential for developing 'personalized therapies' is discussed.
Response to Amar J. Klar: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders.
MANY common disorders, including schizophrenia and bipolar affective disorder, are highly heritable, yet do not exhibit simple inheritance patterns. Individual risk is usually attributed to the
Update to Terwilliger and Göring's “Gene Mapping in the 20th and 21st Centuries” (2000): Gene Mapping When Rare Variants Are Common and Common Variants Are Rare
It isested that the reasons geneticists have had so little success in unraveling the etiology of complex traits had more to do with biology than technology and that many of the decisions about future strategies were being made based on unrealis- tic and untested assumptions.
The complex interplay among factors that influence allelic association
In Figure 1, the axes of the two top panels were incorrectly labelled and the corrected version is shown below.


SNP Mappers Confront Reality and Find It Daunting
A closed meeting held last week concluded that promises to deliver on personalized medicine promises may be harder to achieve than expected, and that more SNPs may be required to track down a particular disease gene than previously estimated.
The Future of Genetic Studies of Complex Human Diseases
In their Perspective, Risch and Merikangas propose that the power of the human genome project with association studies, a method for determining the basis of a genetic disease, can best accomplish the identification of the genetic basis of complex human diseases such as schizophrenia and diabetes.
Linkage disequilibrium mapping of complex disease: fantasy or reality?
Population genetics—making sense out of sequence
The complete human genome nucleotide sequence and technologies for assessing sequence variation on a genome–scale will prompt comprehensive studies of comparative genomic diversity in human
Is there a paradigm shift in genetics? Lessons from the study of human diseases.
  • K. Weiss
  • Biology
    Molecular phylogenetics and evolution
  • 1996
The flood of genetic data made possible by recent technological advances has led to a number of important changes in the conceptual model of genetics, but whether these changes constitute a real "paradigm shift" in genetics, or are merely adjustments in the classical models developed early in this century, is unclear.
The ultimate goal of genetic medicine is to learn how to prevent disease or to treat it with gene therapy or a drug developed specifically for the underlying defect.
Genetics: an explosion of knowledge is transforming clinical practice.
The ultimate goal of genetic medicine is to learn how to prevent disease or to treat it with gene therapy or a drug developed specifically for the underlying defect.
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.
It is found that a high density of markers will be necessary in order to have a good chance of including SNPs with detectable levels of allelic association with the disease mutation, and statistical analysis based on haplotypes can provide additional information with respect to tests of significance and fine localization of complex disease genes.
Analysis of association at single nucleotide polymorphisms in the APOE region.
The goal was to examine patterns of allelic association to begin to investigate the question of whether APOE could have been identified using SNPs, and the strongest evidence of association was at the 2 SNPs immediately flanking APOE.