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Related Experiment Videos

Mapping and identifying genes for asthma and psoriasis.

Juha Kere1

  • 1Department of Biosciences at Novum, Karolinska Institute, 14157 Huddinge, Sweden. juha.kere@biosci.ki.se

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|August 13, 2005
PubMed
Summary

Identifying specific genes for complex diseases like asthma and psoriasis is challenging. This review examines the difficulties in pinpointing effector genes within susceptibility loci, using examples from atopy, asthma, and psoriasis research.

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Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Complex diseases involve multiple genetic and environmental factors, leading to reduced penetrance of susceptibility genes.
  • Positional cloning has identified candidate genes for disorders like Crohn's disease, asthma, and psoriasis.
  • Distinguishing the true effector gene within a linkage locus requires functional validation.

Purpose of the Study:

  • To review challenges in identifying effector genes within genetic susceptibility loci.
  • To illustrate these challenges using examples from atopy/asthma and psoriasis research.
  • To discuss functional studies needed to confirm gene function and disease association.

Main Methods:

  • Examined the GPR154 (GPRA) and AAA1 genes at the atopy/asthma locus on chromosome 7p14.

Related Experiment Videos

  • Studied isoform-specific expression of a protein-coding gene in bronchial biopsies and a mouse asthma model.
  • Investigated the PSORS1 locus for psoriasis on chromosome 6p21, focusing on HLA-Cw6, CCHCR1 (HCR), and CDSN.
  • Engineered transgenic mice with different HCR alleles (non-risk vs. risk) under a cytokeratin-14 promoter.

    • Main Results:

    • In the atopy/asthma locus, isoform-specific expression of the protein-coding gene was analyzed.
    • Overexpression of the HCR risk allele in mouse skin did not induce a psoriasis phenotype.
    • HCR risk allele expression led to allele-specific gene expression changes in mouse skin, mimicking psoriatic changes.

    Conclusions:

    • Identifying effector genes in complex disease loci requires careful functional analysis beyond linkage studies.
    • The HCR gene in the PSORS1 locus may contribute to psoriasis through allele-specific gene expression modulation rather than simple overexpression.
    • Functional studies in relevant models are crucial for understanding the role of candidate genes in complex diseases.