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Related Experiment Video

Updated: Sep 21, 2025

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

PSORS1 Locus Genotyping Profile in Psoriasis: A Pilot Case-Control Study.

Noha Z Tawfik¹, Hoda Y Abdallah^2,3, Ranya Hassan⁴

¹Dermatology, Venereology and Andrology Department, Faculty of Medicine, Suez Canal University, Ismailia 41522, Egypt.

Diagnostics (Basel, Switzerland)

|May 28, 2022

Summary

Genetic analysis of the psoriasis susceptibility 1 (PSORS1) locus in an Egyptian cohort identified rs10484554 as a key single-nucleotide polymorphism (SNP) associated with increased psoriasis risk and severity. Psoriatic patients also showed under-expression of the PSORS1C1 gene.

Keywords:

LOC105375015 PSORS1C1/CDSN PSORS1C3 psoriasis rs10484554 rs1062470 rs887466 single-nucleotide polymorphism

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Area of Science:

Genetics
Dermatology
Immunology

Background:

The psoriasis susceptibility 1 (PSORS1) locus, within the major histocompatibility complex, is a primary genetic determinant of psoriasis.
Investigating single-nucleotide polymorphisms (SNPs) within this locus is crucial for understanding disease pathogenesis.

Purpose of the Study:

To investigate the genotyping profile of three SNPs in the PSORS1 locus: rs1062470, rs887466, and rs10484554.
To correlate these SNPs and PSORS1C1 gene expression with psoriasis risk and severity in an Egyptian cohort.

Main Methods:

A pilot case-controlled study involving 100 psoriatic patients and 100 healthy individuals.
Genotyping of three specific SNPs (rs1062470, rs887466, rs10484554) within the PSORS1 locus.
Assessment of relative PSORS1C1 gene expression and correlation with disease parameters.

Main Results:

The SNP rs10484554 showed the strongest association with psoriasis risk, with C/T and T/T genotypes increasing likelihood of developing the disease.
The T allele of rs10484554 was significantly associated with higher psoriasis risk (3 times more likely).
Relative gene expression of PSORS1C1 was significantly lower in psoriatic patients compared to healthy controls.

Conclusions:

The three studied SNPs within the PSORS1 locus are associated with psoriasis risk and severity in the Egyptian population.
rs10484554 emerges as a potential major genetic factor contributing to psoriasis development within the PSORS1 locus.
Reduced PSORS1C1 gene expression may play a role in psoriasis pathogenesis.