Abstract
Caspase recruitment domain family member 8 (CARD8) is an adaptor molecule that negatively regulates nuclear factor-κB (NF-κB) activation, interleukin (IL)-1β secretion, and apoptosis. These play important roles in the pathogenesis of psoriasis. Genetic variants of CARD8 have been associated with an increased risk of several inflammatory diseases and psoriasis in Europe. However, nothing is known about the association of the polymorphisms of CARD8 and psoriasis vulgaris (PsV) in the Han population of northeastern China. To investigate the potential association between them, we designed a case-control study to genotype four selected single nucleotide polymorphisms (SNPs) using the improved multiplex ligation reaction (iMLDR) method. Model-based single SNP frequentist-test and haplotype association studies were performed to assess the association between SNPs and PsV. The results showed that the intron SNP rs10403848 was significantly associated with PsV (additive model p=0.0418, p′=0.0411, and statistical power 0.1902; heterozygous model p=0.0418, p′=0.0164, and statistical power 0.9406). A potential risk locus of nonsynonymous SNP rs2043211 found in the European population did not show a significant association in our study. We found that the polymorphism rs10403848 in CARD8 is significantly associated with PsV risk in the Han population of northeastern China. CARD8 may be involved in PsV in this population, as in the European population, but a different genetic process should be considered for the heterogeneity of risk loci.
Highlights
Psoriasis is an immunologically mediated chronic inflammatory and hyperproliferative skin disease affected by both genetic and environmental factors
In 1152 quality control samples, the genotype recall rate was 100%. e genotype frequencies of CARD8 polymorphisms in the study were common Single nucleotide polymorphism (SNP) (MAF > 0.05), as estimated. In both the case and control groups, none of the studied polymorphisms deviated from Hardy–Weinberg equilibrium (HWE), and no SNP demonstrated a Mendelian genetic error
We and calculated we found the that power of the sample using the power of the additive model distribution was 0.1902 and the heterozygous model distribution was 0.9406, which indicated that CARD8 may be associated with the development of psoriasis vulgaris (PsV)
Summary
Psoriasis is an immunologically mediated chronic inflammatory and hyperproliferative skin disease affected by both genetic and environmental factors. It is characterized by epidermal hyperplasia, inflammatory cell infiltration, and vascular remodeling [1], and it affects 0.5–3% of the general population [2]. Ere is abundant evidence showing that numerous risk-associated genetic variants within many susceptibility loci are related to PsV [4]. People have performed numerous studies on PsV and uncovered a few novel genetic loci that are associated with the disease, including those related to innate immunity, T-cell signaling, skin barrier function, and NF-kB signaling [5]. In PsV, a substantial polygenic component remains unclear but would have an impact on the development of genetic diagnosis and prognosis
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