Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon
Antonia Msafiri Makene1, Jun-Lin Liu
1Department of Dermatology and Venereology. The Second Affiliated Hospital of Hainan Medical University, Haikou, Hainan, China.
Insights
The CARD14 gene is linked to psoriasis vulgaris susceptibility in the Hainan Han population. Specific single nucleotide polymorphisms (SNPs) and haplotypes within CARD14 influence disease risk.
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Psoriasis is a chronic immune-inflammatory disease affecting 125 million globally, with impacts beyond skin.
- Genome-wide association studies suggest CARD14 gene variants are associated with psoriasis.
- Understanding genetic susceptibility is crucial for individualized psoriasis therapy.
Purpose of the Study:
- To investigate the association between the CARD14 gene and psoriasis vulgaris susceptibility.
- To identify specific single nucleotide polymorphisms (SNPs) and haplotypes within CARD14 related to psoriasis risk.
Main Methods:
- Exome sequencing of 101 psoriasis patients and 79 healthy controls.
- Sequencing of CARD14 gene regions (±1kb upstream/downstream).
- SNP-based and haplotype-based association analyses, including bioinformatic predictions of SNP impact.
Main Results:
- Identified 32 polymorphisms, with 3 SNPs (1 exonic, 2 intronic) associated with psoriasis susceptibility (P < .05).
- Exonic SNP rs144475004 resulted in an amino acid change (Asp to His).
- Two protective haplotypes (CARD14-1, CARD14-2) showed significantly lower frequencies in patients (1.49%) vs. controls (6.96%).
Conclusions:
- The CARD14 gene is associated with psoriasis vulgaris susceptibility in the Hainan Han population.
- Specific CARD14 SNPs and haplotypes may serve as biomarkers for psoriasis risk.
- Findings contribute to understanding the genetic basis of psoriasis and personalized treatment approaches.
Abstract:
Psoriasis is a serious non-communicable, chronic immune-inflammatory mediated disease affecting about 125 million people worldwide. Its effects go beyond skin manifestation. Through genome-wide association studies, the caspase recruitment domain family member 14 (CARD14) gene and other gene variants have been implicated to have an association with Psoriasis, and as we move towards individualized therapy the discovery of single nucleotide polymorphism (SNP) is of great importance. This study aimed to determine whether the CARD14 gene is a susceptible gene for psoriasis vulgaris. In this study, 101 psoriasis patients and 79 healthy controls were subjected to exome sequencing. The CARD14 gene regions upstream and downstream of 1kb were sequenced. SNP-based association analysis and haplotype-based association analysis were performed in SNPs with minimum allele frequency (MAF) greater than 1%. Bioinformatic methods were used to predict the impact of risk loci on gene function. A total of 32 polymorphisms were identified in this study, of which 3 SNPs (1 in exon and 2 in intron) were susceptible to psoriasis (P < .05, OR = 0.19~0.53, 95%CI = 0.05~0.70). Bioinformatics analysis showed that rs144475004 located on the exon led to an amino acid change from aspartate to histidine. On the other hand, results of haplotype-based association analysis showed that 2 haplotypes (CARD14-1 and CARD14-2) were protective haplotypes of the disease (P < .05, OR = 0.18~0.38, 95%CI = 0.05~0.88), the frequencies in healthy controls and patients was 6.96% and 1.49%, respectively. CARD14 gene is associated with susceptibility to psoriasis vulgaris in the Hainan Han population.
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