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Related Experiment Video

Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.

Jo Knight¹, Sarah L Spain, Francesca Capon

¹National Institute for Health Research, Biomedical Research Centre, Guy’s and St Thomas’ NHS Foundation Trust, Toronto, ON, Canada M5T 1R8.

Human Molecular Genetics

|August 24, 2012

Summary

Researchers identified four new genetic risk loci for psoriasis within the major histocompatibility complex (MHC) region. These findings enhance our understanding of psoriasis genetics, implicating immune system regulation in the chronic inflammatory skin disease.

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Last Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Immunology
Genetics
Dermatology

Background:

Psoriasis is a prevalent chronic inflammatory skin condition with a significant genetic component.
The major histocompatibility complex (MHC) region contains key psoriasis susceptibility loci, notably HLA-Cw*0602.
Linkage disequilibrium within the MHC complicates the identification of independent risk loci.

Purpose of the Study:

To identify and validate additional independent genetic risk loci for psoriasis within the MHC region.
To refine the understanding of the genetic architecture underlying psoriasis susceptibility.

Main Methods:

Utilized large psoriasis case and control datasets for statistical conditional analysis.
Performed replication studies in independent sample cohorts to validate identified associations.
Focused analysis on the major histocompatibility complex (MHC) region.

Main Results:

Identified and replicated four independent genetic association signals within the MHC, in addition to the known HLA-C locus.
Three of the four novel signals were detected at SNPs rs2507971, rs9260313, and rs66609536, located near MICB, HLA-A, and HCG9.
The previously identified locus was near MICA, and the novel loci were near MICB, HLA-A, and HCG9, highlighting the immunological relevance of these genes.

Conclusions:

The study successfully identified novel genetic loci associated with psoriasis risk within the MHC.
The findings underscore the role of genes encoding MHC class I-related proteins, such as MICA and MICB, in psoriasis pathogenesis.
These discoveries contribute to a more comprehensive model of inherited susceptibility to psoriasis, involving skin barrier and immune dysregulation.