Association of NOTCH4 Gene Polymorphism with the Susceptibility to Psoriasis Vulgaris in Pakistan

Background: Psoriasis Vulgaris (PsV) is one of the most severe chronic, immune mediated skin diseases. The Notch signaling pathway, a key regulator for epidermal renewal, contributes in differentiation, proliferation and survival of keratinocytes. Alterations in the NOTCH4 gene disrupts Notch pathway. The current study aimed to find out the association of NOTCH4 gene polymorphism(s) in Pakistani psoriatic patients. Methods: A case control study, 390 DNA samples (190 samples of Psoriasis Vulgaris and 200 healthy control individuals), from January-December 2019, were selected from Rawalpindi Leprosy Hospital and healthy population, respectively. For amplification of (rs387071) SNP of NOTCH4 gene, lab standard protocols for T-ARMS-PCR were followed. Frequencies of genotype and allele were calculated by using Hardy Weinberg theorem. Data were analyzed by using SPSS and p-value ≤0.05 was considered statistically significant. Results: The mean age of patients was 34.6±14 while among control subjects it was 32.8±10.0. In cases, genotype homozygous A/A119 (62.6%) was more prevalent, followed by heterozygous A/G171 (90%) while homozygous G/G19 (10%) was the least prevalent between cases and controls. Allele A frequency in diseased subjects was 0.76 while, for controls it was 0.78. In addition, allele G frequency in patients and controls was 0.24 and 0.22 respectively. Based on Hardy Weinberg equilibrium, no association of (rs387071) NOTCH4 gene with psoriasis cases was found. Conclusion: NOTCH4 gene (rs387071) polymorphism was not significantly associated with patients of psoriasis Vulgaris in Pakistan. Larger studies are required to establish ethnic-specific markers for psoriasis in Pakistani population. Keywords: Psoriasis Vulgaris; PCR; NOTCH4; Polymorphism.