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Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis
Saima Suleman1,2, Gagan Chhabra1, Rubab Raza1,3
1Department of Dermatology, University of Wisconsin, Madison, WI 53705, USA.
International Journal of Molecular Sciences
|August 26, 2022
Summary
This study identified two CARD14 gene variants, rs2066965 and rs34367357, associated with psoriasis in a Pakistani population. These genetic markers may aid in understanding psoriasis susceptibility and developing targeted therapies.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Psoriasis is a chronic, immune-mediated skin disease influenced by genetic and environmental factors.
- CARD14 gain-of-function mutations are implicated in psoriasis pathogenesis.
- Investigating CARD14 gene variants in diverse populations is crucial for understanding disease mechanisms.
Purpose of the Study:
- To assess the association of CARD14 non-synonymous single-nucleotide polymorphisms (nsSNPs) with psoriasis in the Pakistani population.
- To identify potential CARD14 genetic markers for psoriasis susceptibility.
- To explore the functional impact of identified variants on CARD14 protein structure and activity.
Main Methods:
- DNA extraction from blood samples of 123 subjects (63 psoriasis patients, 60 controls).
- Polymerase Chain Reaction (PCR) and Sanger sequencing of 18 CARD14 nsSNPs.
- Bioinformatics analysis and protein structure prediction (alpha-fold2) followed by molecular dynamics simulations (NMSim).
Main Results:
- Two nsSNPs, rs2066965 (R547S) and rs34367357 (V585I), showed a significant association with psoriasis.
- The rs2066965 heterozygous genotype was more frequent in patients experiencing joint pain.
- R547S mutation increased protein flexibility, while V353I promoted NF-kappa B activation.
Conclusions:
- Confirms the association of CARD14 nsSNPs rs2066965 and rs34367357 with psoriasis in a Pakistani cohort.
- These CARD14 variants may serve as potential genetic markers for psoriasis.
- Findings contribute to understanding the genetic basis of psoriasis and may inform future diagnostic or therapeutic strategies.
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