Abstract
Background Abnormal apoptosis of keratinocytes is one of the pathological changes of psoriasis. Caspases (CASPs) are the central engines of apoptosis. Studies to date have shown that some SNPs alter the expression of related genes and lead to changes in disease risk. However, no studies have investigated the associations between gene polymorphisms and the risk of psoriasis in Han population in northeast China. Therefore, we conducted a case-control study to explore this question in Han population of northeastern China. Methods 540 patients with PsV and 612 healthy age- and sex-matched controls were enrolled in this study. We determined the genotypes of 17 single nucleotide polymorphisms (SNPs) from 11 genes of caspase family by the improved multiplex ligation detection reaction (iMLDR) method. A model-based single SNP frequentist test and haplotype association studies were performed to evaluate the association between SNPs and PsV. Results In the single SNP tests, rs6704688 in CASP8 was significantly associated with psoriasis vulgaris (PsV) in Han population of northeastern China (P = 0.0169, P' = 0.0179 under the additive model; P = 0.0126, P' = 0.0149 under the heterozygous model). In haplotype analyses, the CASP7 haplotype GC was found to be associated with PsV risk (case group versus control group, 47.2% versus 54.4%, respectively, p = 0.0149). Conclusions Our study presented that the gene polymorphisms of CASP7 and CASP8 were significantly associated with PsV in Han population of northeastern China, which implied the functional relationship between PsV and caspase genes. CASP8 and CASP7 SNPs could be new potential biomarkers for risk stratification and prevention of PsV.
Highlights
Psoriasis is a common chronic relapsing inflammatory skin disorder that is induced and sustained by lymphocytes infiltrating the skin, affecting about 2-3% of the population [1, 2]
We found that the interaction of CASP10 - CASP1, CASP10 - CASP3, CASP10 - CASP4, CASP10 - CASP9, CASP10 - CASP12, CASP8 - CASP3, CASP8 - CASP4, and CASP1 - CASP12 is important for the risk of psoriasis (Table 4)
These findings suggested that polymorphisms in CASP7 and CASP8 were associated with psoriasis vulgaris (PsV) risk in Han population of northeastern China and provide new insights into the importance of CASP7 and CASP8 in psoriasis susceptibility
Summary
Psoriasis is a common chronic relapsing inflammatory skin disorder that is induced and sustained by lymphocytes infiltrating the skin, affecting about 2-3% of the population [1, 2]. Studies to date have shown that some SNPs alter the expression of related genes and lead to changes in disease risk. No studies have investigated the associations between gene polymorphisms and the risk of psoriasis in Han population in northeast China. We conducted a case-control study to explore this question in Han population of northeastern China. In the single SNP tests, rs6704688 in CASP8 was significantly associated with psoriasis vulgaris (PsV) in Han population of northeastern China (P = 0.0169, P’ = 0.0179 under the additive model; P = 0.0126, P’ = 0.0149 under the heterozygous model). Our study presented that the gene polymorphisms of CASP7 and CASP8 were significantly associated with PsV in Han population of northeastern China, which implied the functional relationship between PsV and caspase genes. CASP8 and CASP7 SNPs could be new potential biomarkers for risk stratification and prevention of PsV
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