Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study.
BMC Med Genomics
; 16(1): 335, 2023 12 21.
Article
em En
| MEDLINE
| ID: mdl-38129828
ABSTRACT
BACKGROUND:
Psoriasis is a chronic, autoimmune, papulosquamous skin disorder, characterized by the formation of drop-like papules and silvery-white plaques surrounded by reddened or inflamed skin, existing predominantly on the scalp, knees and elbows. The characteristic inflammation and hyperproliferation of keratinocytes in psoriasis is regulated by progranulin (PGRN), which suppresses the expression and release of inflammatory cytokines, such as TNF-α.METHODOLOGY:
In this study mutation analysis of the PGRN gene was performed by extracting the genomic DNA from blood samples of 171 diagnosed psoriasis patients and controls through standard salting-out method, followed by amplification and sequencing of the targeted region of exon 5-7 of PGRN gene.RESULTS:
Three single nucleotide polymorphisms, rs25646, rs850713 and a novel point mutation 805A/G were identified in the PGRN gene with significant association with the disease. The variant alleles of the polymorphisms were significantly distributed among cases and controls, and statistical analysis suggested that the mutant genotypes conferred a higher risk of psoriasis development and progression. Multi-SNP haplotype analysis indicated that the CAA (OR = 8.085, 95% CI = 5.16-12.66) and the CAG (OR = 3.204, 95% CI = 1.97-5.21) haplotypes were significantly associated with psoriasis pathogenesis.CONCLUSIONS:
These findings demonstrate that polymorphisms in PGRN might act as potential molecular targets for early diagnosis of psoriasis in susceptible individuals.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Psoríase
/
Peptídeos e Proteínas de Sinalização Intercelular
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article