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Applying a new generation of genetic maps to understand human inflammatory disease

Nature Reviews Immunology volume 5, pages 83–91 (2005)Cite this article

Abstract

The sequencing of the human genome and the intense study of its variation in different human populations have improved our understanding of the genome's architecture. It is now becoming clear that segments of the genome that are unbroken by reshuffling or recombination during meiosis create a mosaic of DNA 'haplotype blocks'. Here, we discuss the advantages and limitations of this block structure. Haplotype blocks hold the promise of reducing the complexity of analysing the human genome for association with disease. But can they deliver on this promise? First generation maps of these block patterns, such as the admixture and haplotype maps, are now emerging and, it is to be hoped, will accelerate the discovery of alleles that contribute to susceptibility to human inflammatory diseases.

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Figure 1: Outline of an admixture study of multiple sclerosis.
Figure 2: SNPs, haplotypes and haplotype-tagging SNPs.

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Author information

Authors and Affiliations

  1. Department of Neurology, Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, 02115, Massachusetts, USA

    David A. Hafler & Philip L. De Jager

  2. Broad Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

    David A. Hafler & Philip L. De Jager

  3. Harvard University, Cambridge, Massachusetts, USA

    David A. Hafler & Philip L. De Jager

Authors
  1. David A. Hafler
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  2. Philip L. De Jager
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Correspondence to David A. Hafler.

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The authors declare no competing financial interests.

Related links

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DATABASES

Entrez Gene

IBD5

OMIM

IBD

MS

SLE

type 1 diabetes

FURTHER INFORMATION

David Hafler's laboratory

International HapMap Project

Locus View

SNP Consortium

Glossary

ADMIXTURE

The mixing of two genetically distinct populations.

ASSOCIATION STUDIES

An approach to gene mapping that looks for associations between a particular disease phenotype and allelic variation.

RANDOM GENETIC DRIFT

The random fluctuation in population allele frequencies as genes are transmitted from one generation to the next.

SINGLE-NUCLEOTIDE POLYMORPHISMS

(SNPs). Bi-allelic (typically) base-pair substitutions, which are the most common forms of genetic polymorphism.

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Hafler, D., Jager, P. Applying a new generation of genetic maps to understand human inflammatory disease. Nat Rev Immunol 5, 83–91 (2005). https://doi.org/10.1038/nri1532

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