The A/A genotype of an interleukin-17A polymorphism predisposes to increased severity of atopic dermatitis and coexistence with asthma.

INTRODUCTION: Studies have found that the interleukin-23/T helper 17 (IL-23/Th17) pathway plays an important role in the pathogenesis of atopic dermatitis (AD). Inhibition of the IL-23/Th17 pathway with monoclonal antibodies reduces skin inflammation in animal models. AIM: To investigate the association between IL-17A and IL-23R gene single nucleotide polymorphisms (SNPs) and the development of AD in a Polish population. METHODS: Blood samples were collected from 166 patients with AD and 160 controls. We analyzed two SNPs, -152 G/A IL-17A and 1142 G/A IL-23R, using PCR and restriction fragment length polymorphism (RFLP) analysis. RESULTS: There was no statistically significant difference between the examined IL-17A SNP and the incidence of AD (P > 0.05 for all comparisons). Analysis of the IL-23R gene SNP showed no relationship between AD and the G/A genotype or presence of the A allele. The study did not establish any links between the IL-23R and IL-17A gene SNPs and the likelihood of developing AD resulting from gene-gene interaction. However, there was a significant relationship between the A/A genotype in the -152 G/A IL1-7A SNP and the coexistence of AD and asthma (P < 0.04). Analyzing the association between AD severity and the occurrence of IL-17A SNP, we found that subjects with the A/A genotype were at higher risk of developing moderate or severe AD (P = 0.02). CONCLUSIONS: We found no evidence of any effect of IL-17A or IL-23R SNPs on the occurrence of AD in our Polish population. However, the A/A genotype in IL-17A was found to predispose to increased AD severity and coexistence of AD and asthma.

The relationship of TP53 and GRIN2B gene polymorphisms with risk of occurrence and progression of primary open-angle glaucoma in a Polish population.

INTRODUCTION: Glaucoma is characterized by optic neuropathy of the retinal ganglion cells (RGCs). Retinal ganglian cell death may be mediated by apoptosis. TP53 is involved in this process. It can also be found that excitotoxicity contributes to apoptosis by excess stimulation of glutamate receptors. The aim of this study was to evaluate the relationship of the TP53 (rs1042522) and GRIN2B (rs3764028) gene polymorphisms with risk of occurrence of primary open-angle glaucoma (POAG). MATERIAL AND METHODS: The study population consisted of 186 patients and 188 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP. RESULTS: Comparison of the distributions of genotypes and alleles of the rs1042522 and rs3764028 polymorphisms showed no statistically significant differences between POAG patients and controls (p > 0.05). There was a statistically significant association of the rs1042522 polymorphism with progression of POAG depending on the retinal nerve fiber layer (p = 0.019). However, no significant differences between rs3764028 polymorphism and clinical parameters of POAG were observed (p > 0.05). CONCLUSIONS: The TP53 Arg72Pro and GRIN2B -421C/A gene polymorphisms were not associated with risk of occurrence of POAG in the Polish population. However, the Arg72Pro polymorphism of the TP53 gene may be related to progression of POAG.

The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and progression of primary open angle glaucoma development in the Polish population.

Glaucoma is an ocular disorder that is characterized by progressive degeneration of the optic nerve and loss of visual field (VF). Recent data have suggested that the level of oxidative DNA damage in human trabecular meshwork is significantly increased in glaucomatous patients as compared to controls. It was also noted that progressive loss of visual field may by connected with elevated levels of oxidative DNA lesions. This hypothesis may suggest the role of an inefficient base excision repair pathway in primary open angle glaucoma (POAG) pathogenesis. The aim of the study was to evaluate the association of the 148 Asp/Glu APE1 gene polymorphism with the risk of POAG development. One hundred fifty patients with POAG and 190 controls were enrolled in our study. Gene polymorphisms were analyzed by PCR-CTPP. We did not observe a statistically significant difference between the frequencies of alleles and genotypes of the 148 Asp/Glu APE1 gene polymorphism in POAG patients and controls. However, the presented study indicated that 148 Asp/Glu of the APE1 gene was associated with decreased risk of progression of POAG with reference to the parameter VF. We suggest that the 148 Asp/Glu APE1 gene polymorphism may decrease the risk of POAG progression.