A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China

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.

Single-Nucleotide Polymorphism LncRNA AC008392.1/rs7248320 in CARD8 is Associated with Kawasaki Disease Susceptibility in the Han Chinese Population

“…Currently, there are also many other studies on CARD8 polymorphisms for their activity under different conditions. For example, the CARD8 rs2043211 polymorphism was shown to protect against noise-induced hearing loss; 61 the CARD8 rs2043211 polymorphism may be associated with gout; 37 the CARD8 rs10403848 polymorphism was significantly associated with psoriasis vulgaris, 62 as the CARD8 rs7248320 polymorphism influenced KD susceptibility in our study. More SNP genes of CARD8 associated with KD susceptibility, treatment, prognosis, and outcome need to be clarified in the future.…”

Association of Polymorphisms of Metabolism-Related Genes with Psoriasis Vulgaris in Han Chinese

“…SNPs have been involved in a variety of diseases including PsV [ 1 , 7 , 8 ]. In this study, we investigated 18 polymorphisms reported in previous studies to be associated with metabolic syndrome and examined them in a Chinese Han population.…”

“…Psoriasis is a chronic inflammatory disease caused by various factors including genetic factors, with psoriasis vulgaris (PsV) representing the most common type [ 1 ]. Recently, it is reported that psoriasis is related to metabolic syndrome.…”

The polymorphism of the CARD8 inflammasome-related gene is associated with glutamic-acid-decarboxylase-antibody positivity in patients with type 1 diabetes mellitus

“…The CARD8 gene, which is located on chromosome 19 (19q13.33), contains 22 exons, and rs10403848 is located in the last intron. A recent study reported that this newly discovered CARD8 polymorphism is significantly associated with psoriasis vulgaris, an immunologically mediated chronic inflammatory disease, in the Han population of northeastern China (27). Polymorphism rs2043211, which is a nonsense mutation resulting in a truncated CARD8 protein, is located in exon 5.…”