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Updated: Oct 10, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Protective association exhibited by a single nucleotide polymorphism of the IFIH1 gene in patients with psoriasis: A
Evelyn Vanesa Erazo Luna1, Claudia Janeth Echavarría Sierra2, Diana M Cornejo-Sánchez3
1Grupo de Investigación Dermatológica (GRID), Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia; Grupo de Mapeo Genético, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia. ORCID: 0000-0002-6116-3191.
Introduction:
Psoriasis is a chronic inflammatory dermatosis, a with variable clinical presentation and whose multifactorial etiology carries an essential genetic component. Multiple genetic variations associated with psoriasis have been described around the world. However, these variants are unknown among the Colombian population. This study aimed to evaluate the single nucleotide polymorphism rs10930046 (His460Arg) in the IFIH1 gene and its ssociation with the development of psoriasis in a Colombian population.
Methods:
An observational, unmatched, case-control study was performed, including 51 patients with psoriasis and 151 population controls, all with self-reported Paisa ancestry (from the Antioquia region). All individuals were genotyped for the single nucleotide polymorphism rs10930046 (His460Arg) in the IFIH1 gene, and its association with psoriasis was pursued. Both groups were demographically characterized, and cases were also assessed for clinical variables.
Results:
Through the allelic association analysis, cases were found to have a lower frequency of the single nucleotide polymorphism rs10930046 (His460Arg) in the IFIH1 gene than controls; 5% versus 22.67%, respectively. There were no significant differences in age or sex. We also found that psoriasis vulgaris was the most common variant (78%), that about half of the cases had nail psoriasis (56%), 19.6% had psoriatic arthritis, and that 45% had some comorbidity.
Conclusions:
The results obtained from this study confirm that carriers of the single nucleotide polymorphism rs10930046 (His460Arg) in the IFIH1 gene have a decreased risk of developing psoriasis.
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