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Updated: May 8, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk
1Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Połabska 4, 70-115, Szczecin, Poland, debniak@pum.edu.pl.
Genetic variants in the TRAF3IP2 gene are associated with psoriasis vulgaris, particularly pustular psoriasis. No significant links were found for RPTOR or ZNF750 genes in this study.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Psoriasis vulgaris is a complex genetic disorder with an incompletely understood molecular basis.
- Identifying genetic susceptibility factors is crucial for understanding disease pathogenesis and developing targeted therapies.
Purpose of the Study:
- To investigate the association between common variants in ZNF750, RPTOR, and TRAF3IP2 genes and psoriasis vulgaris.
- To explore the relationship between these genetic variants and specific clinical phenotypes of psoriasis.
Main Methods:
- Genotyping of 10 common variants in ZNF750, RPTOR, and TRAF3IP2 genes using Taqman assays and sequencing.
- Analysis of a cohort comprising 1,034 case-control individuals.
- Statistical analysis to assess associations between genetic variants, psoriasis susceptibility, and clinical phenotypes.
Main Results:
- Significant association found between TRAF3IP2 variants, particularly rs33980500, and psoriasis susceptibility (OR=2.5, p=0.01790).
- Replication of the association of TRAF3IP2 rs33980500 with psoriasis risk.
- New associations identified between TRAF3IP2 variants and pustular psoriasis, disease severity, age of onset, and familial aggregation.
Conclusions:
- The TRAF3IP2 gene, specifically the rs33980500 variant, is confirmed as a susceptibility factor for psoriasis vulgaris.
- Genetic variations in TRAF3IP2 are linked to distinct clinical presentations, including pustular psoriasis and disease severity.
- No significant associations were observed for RPTOR and ZNF750 gene variants with psoriasis or its phenotypes in this cohort.
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