The Genetic Variants of NOTCH3 (6746T>C) and PSMA6 (-8C>G) As Possible Risk Factors of Psoriasis Development
Abstract Advances in genotypic technologies enable identification of possible associations between genetic variants of certain genes and increased risk of developing plaque psoriasis or psoriatic arthritis. The aim of the study was to analyze the NOTCH3 (6746T>C) (rs1044009) and PSMA6 (8C>G) (rs1048990) polymorphisms and their role in genetic susceptibility to psoriasis. The study included 158 psoriatic patients and 100 healthy controls. The frequencies of the NOTCH3 genotypes differed between the psoriatic patients and controls (p=0.050). No differences were found in the distribution of PSMA6 genotypes and alleles between the psoriatic patients and controls. The studied psoriatic patients presented a higher frequency of the CC genotype of PSMA6 compared to the healthy controls (8.8% vs 2%, respectively). Psoriatic arthritis was more frequent among patients with the CC genotype of PSMA6 (p=0.059). Simultaneous CC homozygosity of NOTCH3 and PSMA6 was significantly more commonly observed in the studied psoriatic patients than in the controls (p=0.032). The obtained data suggest that genetic variants of NOTCH3 (6746T>C) and PSMA6 (-8C>G) genes may play significant roles in psoriatic patients. Further studies are necessary to unequivocally determine their role as genetic risk factors of psoriasis development.