PCR Real time Mismatch Amplification Mutation Assay (MAMA Real Time PCR) for evaluation of TNF-α promoter gene polymorphism -308 G/A in patients with psoriasis

G Ital Dermatol Venereol. 2016 Oct;151(5):463-6. Epub 2015 Nov 19.

Abstract

Background: Psoriasis is a common chronic inflammatory disease, the plaques are infiltrated by leukocytes producing high levels of proinflammatory cytokines and TNF-α. Single-nucleotide polymorphisms within the gene promoters have been shown to affect gene expression. The -308 G/A polymorphism could affect TNF synthesis at transcriptional level. The present study develops a MAMA Real Time PCR assay, in order to identify homozygosis or heterozygosis for TNF-α -308 G/A polymorphism.

Methods: Seventy patients with psoriasis and 235 controls were considered for the development of the real time PCR assay. Whole blood was processed for nucleic acid extraction.

Results: A percentage of 36.17% controls and 38.6% patients were heterozygosis, considering Amplification-refractory mutation system (ARMS)-PCR assay while 23% and 22.85% were heterozygosis using Mismatch Amplification Mutation Assay (MAMA)-PCR. On the contrary, 1.3% and 1.4% were homozygosis A, while 75.7% and 75.75% presented homozygosis G, taking into account the MAMA-PCR results. The two assays were significantly different (P=0.0004 at χ2 Test), but MAMA-PCR showed a better performance for TNF-α -308 G/A gene polymorphism investigation.

Conclusions: Further studies are needed for a better comprehension of the role of this polymorphism, such as MAMA real time PCR assays development for other players in cellular immune response.

Publication types

  • Comparative Study

MeSH terms

  • Case-Control Studies
  • DNA Mutational Analysis / methods
  • Gene Expression Regulation
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Psoriasis / genetics*
  • Real-Time Polymerase Chain Reaction / methods*
  • Tumor Necrosis Factor-alpha / genetics*

Substances

  • Tumor Necrosis Factor-alpha