biostudies-literatureBagheri-Hosseinabadi ZRafsanjan University of Medical Sciences104https://www.ebi.ac.uk/biostudies/studies/S-EPMC10186752biostudies-literatureUnknown16(1)<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Conclusion</h4>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.BMC medical genomicsImplications of Peptidyl Arginine Deiminase 4 gene transcription and polymorphisms in susceptibility to rheumatoid arthritis in an Iranian population.PMC1018675297484Asadi FAbbasifard MMirzaei MRAhmadinia HEsmaeili OShamsoddini BBagheri-Hosseinabadi ZfalseImplications of Peptidyl Arginine Deiminase 4 gene transcription and polymorphisms in susceptibility to rheumatoid arthritis in an Iranian population.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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).<h4>Conclusion</h4>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.2023-01-01T00:00:00Z2023 May2025-04-04T10:19:59.981Z2025-02-19T00:12:43.874ZS-EPMC101867523719399210.1186/s12920-023-01532-9