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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Candidate gene polymorphisms and risk of psoriasis: A pilot study
Alejandra Villarreal-Martínez1, Hugo Gallardo-Blanco2, Ricardo Cerda-Flores3
1Department of Dermatology, University Hospital 'Dr. José Eleuterio González', Monterrey, Nuevo León 64460, México.
Experimental and Therapeutic Medicine
|April 14, 2016
Summary
This pilot study investigated single nucleotide polymorphisms (SNPs) associated with psoriasis in a Mexican population. Six SNPs showed a potential increased risk, but further research with larger sample sizes is needed to confirm these findings for psoriasis genetics.
Area of Science:
- Genetics and Genomics
- Dermatology
- Immunology
Background:
- Psoriasis is a complex genetic disorder influenced by immune and inflammatory responses.
- Numerous single nucleotide polymorphisms (SNPs) have been linked to psoriasis susceptibility.
- Previous research identified associations in European, American, and Asian populations.
Purpose of the Study:
- To investigate the genotypic and allelic frequencies of 32 SNPs at 24 genetic loci in a Mexican population.
- To determine the association of these SNPs with chronic plaque psoriasis.
- To explore the role of specific genetic variations in psoriasis risk within this demographic.
Main Methods:
- Analysis of 32 SNPs across 24 genetic loci in 46 psoriasis patients and 103 controls.
- Genotyping performed using TaqMan® assays on a TaqMan® OpenArray® Genotyping system.
- Statistical analysis conducted using Golden Helix SNP and Variation Suite 7, including Fisher's exact test, false discovery rate, and Bonferroni correction.
Main Results:
- Six SNPs (rs10484554 in HLA-C, rs3212227 and rs3213094 in IL-12B, rs1265181 in HLA complex group 27, rs17728338 in annexin A6, and rs6125829 in RNF114) showed an association with increased psoriasis risk.
- Initial statistical significance was observed, but lost after stringent multiple testing corrections (false discovery rate and Bonferroni).
- The identified SNPs have prior associations with psoriasis in other global populations.
Conclusions:
- This pilot study suggests potential associations between specific SNPs and psoriasis risk in a Mexican Mestizo population.
- The observed associations did not reach genome-wide significance after correction, highlighting the need for larger sample sizes.
- Further validation studies are crucial to confirm the role of these genetic variants in Mexican psoriasis patients.
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