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  • Title: Implications of Peptidyl Arginine Deiminase 4 gene transcription and polymorphisms in susceptibility to rheumatoid arthritis in an Iranian population.
    Author: Bagheri-Hosseinabadi Z, Mirzaei MR, Esmaeili O, Asadi F, Ahmadinia H, Shamsoddini B, Abbasifard M.
    Journal: BMC Med Genomics; 2023 May 16; 16(1):104. PubMed ID: 37193992.
    Abstract:
    BACKGROUND: Peptidyl arginine deiminase 4 (PADI4) has been implicated in Rheumatoid arthritis (RA) pathogenesis. Here we aimed to evaluate the association of PADI4 gene rs11203367 and rs1748033 single nucleotide polymorphisms (SNPs) with RA proneness. METHODS: The mRNA expression of PADI4 was determined in the whole blood samples. The genotyping of PADI4 polymorphisms was conducted using allelic discrimination TaqMan genotyping Real-time PCR. RESULTS: The alleles and genotypes of rs11203367 polymorphism were not associated with susceptibility to RA risk. The T allele (OR = 1.58, 95%CI: 1.21-2.04, P = 0.0005), TT genotype (OR = 2.79, 95%CI: 1.53-5.06, P = 0.0007), TC genotype (OR = 1.52, 95%CI: 1.04-2.23, P = 0.0291), dominant (OR = 1.72, 95%CI: 1.19-2.47, P = 0.0034) and recessive (OR = 2.19, 95%CI: 1.25-3.82, P = 0.0057) models of rs1748033 SNP were associated with higher risk of RA. There was a significant upregulation of PADI4 mRNA in the RA patients compared to controls. mRNA expression of PADI4 had significantly positive correlation with anti-CCP level (r = 0.37, P = 0.041), RF level (r = 0.39, P = 0.037), and CRP level (r = 0.39, P = 0.024). CONCLUSION: PADI4 gene rs1748033 SNP was associated with increased RA risk. This polymorphism might affect the RA pathogenesis regardless of impressing the levels of PADI-4 in serum.
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