Life (Aug 2021)

The Genetic Variants of NOTCH3 (6746T>C) and PSMA6 (-8C>G) as Possible Risk Factors of Psoriasis Development

  • Joanna Bartosińska,
  • Szymon Zmorzyński,
  • Beata Sarecka-Hujar,
  • Dorota Raczkiewicz,
  • Magdalena Wojcierowska-Litwin,
  • Iwona Korszeń-Pilecka,
  • Anna Michalak-Stoma,
  • Małgorzata Kowal,
  • Jarosław Bartosiński,
  • Agata Filip,
  • Dorota Krasowska,
  • Grażyna Chodorowska

DOI
https://doi.org/10.3390/life11090887
Journal volume & issue
Vol. 11, no. 9
p. 887

Abstract

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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 healthy controls (p = 0.050). No differences were found in the distribution of PSMA6 genotypes and alleles between the psoriatic patients and healthy 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). CC homozygosity of NOTCH3 was more commonly observed in the studied psoriatic patients than in the healthy controls (OR = 4.76, 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.

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