Is there Any Difference between the Patients with Primary Endometriomas and those with Recurrent Endometriomas? (original) (raw)

2018, Istanbul Medical Journal

Psoriasis (Ps) (MIM 177900) is a chronic inflammatory skin disease that manifests as red, scaly skin plaques with various degrees of severity and affects almost 2% of the population (1). Psoriasis vulgaris is the most common type of the disease. Several factors associated with the skin, immune system,and human genome have been implicated in the pathogenesis of Ps. Histologically, Ps is characterized by the hyperproliferation and impaired differentiation of keratinocytes, dilated hyperplastic blood vessels, and inflammatory infiltration of leucocytes mainly into the dermis (2). It is suggested that the infiltration of activated T-cells induces keratinocyte proliferation in Ps (3). Nitric oxide (NO), a multifunctional secondary messenger,which acts as a vasodilator, immunomodulator, antioxidant, and bactericide, contributes to the modulation of gene expression, and alters their functions thorough the nitrosylation of involved proteins. NO plays a role in the maintenance of skin homeostasis,and it is a strong regulator of keratinocyte growth and differentiation (4). NO is produced in and released from keratinocytes in high amounts and is the key inhibitor of cellular proliferation and inducer of differentiation in vitro. NO is synthesized from L-arginine by three NO synthases (NOS), namely NOS1 or neuronal, NOS2 or inducible, and NOS3 or endothelial NO synthase (5). These NOS are expressed by skin cell types, and NOS2 is expressed by keratinocytes in Ps and other inflammatory skin disorders (6). The NOS3 gene is found on chromosome 7q35-36, within a length of 4.4 kb (7). The NOS3 gene has several allelic variants, and some of them are functional. The exon 7 Glu298Asp missense variant (rs1799983) and the intron-4 27-bp variable number tandem repeat (VNTR) variant of NOS3 are proposed to be related with NOS3 dysfunction, resulting in impairment of NO production (8). Therefore, in present study, we aimed to investigate the relationship of Ps with the NOS3 gene functional variants in a Turkish cohort. The results obtained from the study were compared both between each other and with the clinical parameters. Is There any Association Between the Functional Variants of the NOS3 Gene and Psoriasis? Introduction: Psoriasis (Ps) is a chronic, immune-mediated inflammatory skin disorder with an incompletely understood etiology. The aim of this study was to investigate the relationship between the suspectibility to Ps and G894T (rs1799983) and variable number tandem repeat (VNTR) variants of the endothelial nitric oxide synthase (NOS3) gene. Methods: This is a case-controlled study that included 74 Ps patients in addition to 74 matched healthy unrelated controls from the same locality. The NOS3 gene variants were analyzed by polymerase chain reaction (PCR) and/or PCR-restriction fragment lenght polymorphism (PCR-RFLP). Results: The NOS3 G894T TT genotype and T allele were more common in the Ps group compared to the healthy controls (p=0.000, p=0.001, respectively). The NOS3 VNTR variant BB genotype and B allele were higher in the patient group than in the control group (p=0.005, p=0.000 respectively). The NOS3 VNTR AA genotype was lower in the patient group (p=0.027). However, a stratified analysis including arthritis, the Ps area and severity index (PASI), the age of onset, and family history revealed no significant correlation between the NOS3 G894T and NOS3 VNTR genotypes (p>0.05). Conclusion: These results suggest that the NOS3 G894T and VNTR variants are associated with Ps in a Turkish cohort. However, future studies are needed to understand the genetic role of the NOS3 variants in the development of Ps.