Susceptibility Genes: Detection


Complex disorders result from the interaction of multiple susceptibility genes with diverse environmental factors. Identification of susceptibility genes is a challenging process; however, the publication of the human genome sequence and a wealth of data on Single nucleotide polymorphisms will greatly facilitate this process.

Keywords: complex disease; polymorphism; linkage; association; linkage disequilibrium

Figure 1.

Genetic disorders and the environment.

Figure 2.

Flow chart for detection of susceptibility genes.

Figure 3.

Identification of a susceptibility gene for migraine. (a) Locus identification. Microsatellite markers were used to identify a linked locus on chromosome 19. (b) Locus construction. The vertical bar represents the linked region on chromosome 19. Horizontal bars on this represent SNP markers. Vertical lines represent large genomic clones. The thick vertical bars represent positional candidate genes. The stars represent SNP markers showing association with migraine. SNP markers are labeled in roman type and microsatellite markers in italics. (c) Susceptibility gene. The insulin receptor (INSR) is a potential susceptibility gene for migraine with five associated SNPs.


Further Reading

Cardon LR and Bell JI (2001) Association study designs for complex diseases. Nature Reviews Genetics 2: 91–99.

Kwok P (2001) Methods for genotyping single nucleotide polymorphisms. Annual Reviews of Genomics and Human Genetics 2: 235–258.

Montagna P (2000) Molecular genetics of migraine headaches: a review. Cephalalgia 20: 3–14.

Risch NJ (2000) Searching for genetic determinants in the new millennium. Nature 405: 847–856.

Strachan T and Read AP (1999) Human Molecular Genetics 2. Oxford, UK: BIOS Scientific Publishers.

Stumpf MPH (2002) Haplotype diversity and the block structure of linkage disequilibrium. Trends in Genetics 18: 226–228.

Web Links

The SNP Consortium Ltd (TSC). Single nucleotide polymorphisms for biomedical research

National Center for Biotechnology Information (NCBI). Repository for databases of genomic information, related literature and data‐mining tools for researchers

Ensembl. Automatically tracks, assembles and displays (human) genomic sequence including related feature such as genes

Golden Path. Displays current progress on human genome sequencing and enables detailed searching of human genome sequence information

Human Genome Project information. Provides information on the aims and progress of the Human Genome Project

Calcium channel, voltage‐dependent, P/Q type, alpha 1A subunit (CACNA1A); Locus ID: 773. LocusLink:

Insulin receptor (INSR); Locus ID: 3643. LocusLink:

Calcium channel, voltage‐dependent, P/Q type, alpha 1A subunit (CACNA1A); MIM number: 601011. OMIM:‐post/Omim/dispmim?601011

Insulin receptor (INSR); MIM number: 147670. OMIM:‐post/Omim/dispmim?147670

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How to Cite close
White, Nicola J, and Riley, John H(Jan 2006) Susceptibility Genes: Detection. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005557]