PADI4 polymorphisms and the functional haplotype are associated with increased rheumatoid arthritis susceptibility: A replication study in a Southern Mexican population

Baños‐Hernández, Christian Johana; Navarro‐Zarza, José Eduardo; Parra‐Rojas, Isela; Vázquez-Villamar, Mirna; Padilla-Gutiérrez, Jorge Ramón; Valle, Yeminia; Reyes-Castillo, Zyanya; Torres‐Carrillo, Nora Magdalena; García‐Arellano, Samuel; Brennan-Bourdon, Lorena Michele; Muñoz‐Valle, José Francisco

doi:10.1016/j.humimm.2017.05.005

Cited by 18 publications

(15 citation statements)

References 38 publications

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“…The results of the current study are consistent with the findings in the Korean [18], German [19], French [20], European [21] and Mexican populations [22][23][24]. On the other hand, the results of this study are inconsistent with that of Chen et al in Chinese population [25] and Shamsian et al in Iranian population [26].…”

Section: Discussionsupporting

confidence: 69%

Single Nucleotide Polymorphism of Padi4 Gene )Rs11203367( in A Sample of Rheumatoid Arthritis Iraqi Patients

Khadim

Al-Kazaz

2022

eijs

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Rheumatoid arthritis (RA) is an inflamed chronic autoimmune disease in which genetics and environment are the most common causative factors. Peptidyl arginine deiminase type IV (PADI4) is an enzyme responsible for the posttranslational conversion of arginine residues into citrulline. Real-time polymerase chain reaction (RT-PCR) is a specific technique was used to determine gene polymorphism. One hundred twenty three patients molecularly confirmed with RA and sixty healthy control subjects were recruited. By applying the logistic regression analysis, some alleles and genotypes were associated with susceptibility to RA. Under the allelic model, C allele frequency was significantly increased in RA patients compared to control (58.5 vs. 46.7%; p = 0.034). The odds ratio (OR) of such difference was 1.61 (95% CI: 1.04 – 2.50). Under the dominant model, TC+CC genotype frequency was higher in patients than in control (82.1vs. 65.5%; OR = 2.47; 95% CI: 1.23 – 4.97; p = 0.015). Under the codominant model, frequency of the heterozygous genotype TC was significantly increased in patients compared to control (47.1 vs. 36.7%; OR = 2.52; 95% CI: 1.17 – 5.41; p = 0.028). The results revealed the role of the rs11203367 variant of padi4 gene in susceptibility to RA in Iraqi patients.

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Section: Discussionsupporting

confidence: 69%

Single Nucleotide Polymorphism of Padi4 Gene )Rs11203367( in A Sample of Rheumatoid Arthritis Iraqi Patients

Khadim

Al-Kazaz

2022

eijs

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“…Other linkage studies such as Suzuki et al 3 also demonstrated that the peptidylarginine deiminase 4 (PADI4) genetic polymorphism associates with the susceptibility to RA. However, though significant in Japanese and Mexican populations, the PADI4 functional haplotype was not associated with RA in the United Kingdom 4‐6 . Similarly, protein tyrosine phosphatase non ‐ receptor 22 polymorphisms were significantly associated with RA in Europe, but not in Latin American 7,8 .…”

Section: Introductionmentioning

confidence: 83%

A novel CD209 polymorphism is associated with rheumatoid arthritis patients in Taiwan

Chan

Wang

Lin

et al. 2021

Clinical Laboratory Analysis

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Single nucleotide polymorphisms (SNPs) in the promoter region of CD209 (cluster of differentiation 209) may influence expression levels, and higher expression of CD209 on immune cells correlate with severity of cartilage destruction in patients with rheumatoid arthritis (RA). Due to the lack of a comprehensive study, this study aimed to investigate the CD209 promoter variants and haplotypes in a Taiwanese population and the association with RA development. Deoxyribonucleic acid (DNA) of peripheral blood mononuclear cells from 126 RA patients and 124 healthy controls was purified, and the CD209 gene promoter was amplified by polymerase chain reaction and analyzed by Sanger sequencing. Results showed that a novel variant −96C>A polymorphism in CD209 promoter was identified in the Taiwanese population, and the frequency was significantly higher in RA patients than in controls (11.51% vs. 2.42%, P < .0001). The odds ratio (OR) for the development of RA was 5.88 (95% CI 2.35–14.74, P < .0001). Other known variants were also evaluated; for instance, −1180 T/T (rs7359874) was increased in RA patients, and the OR for the development of RA was 3.26, 95% CI 0.85–12.52, P = .07). Besides, the haplotype frequencies were calculated; −1180A‐939C‐871 T‐336 T‐139 T‐96A and −1180 T‐939 T‐871C‐336 T‐139C‐96A were increased in RA patients (P = .004 and 0.05, respectively). In summary, CD209‐96A variant could be an important factor for the development of RA in the Taiwanese population.

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“…PADI4 is located on chromosome 1p36 and encodes the enzymes responsible for the arginine to citrulline conversion [10], which, in turn, promotes the synthesis of ACPA. ACPA is known to be a culprit in RA emergence, as these autoantibodies have been found in the synovial fluid of RA patients [63], [64]. The PADI4 polymorphism (rs2240340 T/C) was correlated with the development of RA in patients of Asian descent, particularly in Korean, Chinese, and Japanese populations [65].…”

Section: Discussionmentioning

confidence: 99%

Epidemiological Trends of Rheumatoid Arthritis and PADI4, PTPN22, and HLA-DRB9 Genes Distribution in the Kazakhstan Population

Issilbayeva

Kushugulova

Meiramova

et al. 2021

Open Access Maced J Med Sci

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BACKGROUND: The prevalence of rheumatoid arthritis (RA) is 1% in the global population. The lack of epidemiological studies in developing countries makes it difficult to obtain a complete global epidemiological picture of RA. RA develops due to the interaction of multiple genetic and environmental factors, though the contribution of these factors to the various disease occurrence seen in different populations is unclear. AIM: The aim of our study was to analyze the dynamics of the general prevalence and incidence of RA among the population of Kazakhstan in 2017–2019 as well as to investigate the three most common single-nucleotide polymorphisms (SNP) of RA in the Kazakhstan population. METHODS: The analysis of statistical data on Form 12 “On the health of the people and the health care system” was carried out. Prevalence and incidence rates were calculated according to generally accepted rules. Demographic data for the Republic of Kazakhstan were obtained from the official website stat.gov.kz. Our study included 70 RA patients and 113 control subjects. Blood samples were collected and genotyped for peptidylarginine deiminase 4 (PADI4), protein tyrosine phosphatase 22, and human leukocyte antigen (HLA)-DRB9 SNPs by reverse transcription polymerase chain reaction. RESULTS: The prevalence of RA in Kazakhstan in 2017–2019 was 0.36–0.38%, with an incidence rate of 0.085–0.087%, which can be comparable to data of other countries in Central Asia. The allele and genotypes frequency analyses were carried out between patients and controls. The HLA-DRB9 showed significant association of the G allele odds ratio (OR) 1.96 (95% confidence interval [CI]: 1.252–3.081), p= 0.0025 and G/G genotype OR = 3.67 (95% CI: 1.58–8.54), p = 0.00162 with RA in our sample. Strong association between anti-citrullinated protein antibody (ACPA) profile and PADI4 (OR 12.19 [95% CI: 2.19–67.94], p = 0.00115) was found. CONCLUSION: There was an increase in RA prevalence with age among females and a higher crude prevalence and incidence of RA in the southern regions of Kazakhstan. HLA-DRB9 prevailed in Kazakhstani patients with RA, PADI4 showed association with ACPA-positive RA. Further studies on larger samples are required to confirm our obtained results.

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PADI4 polymorphisms and the functional haplotype are associated with increased rheumatoid arthritis susceptibility: A replication study in a Southern Mexican population

Cited by 18 publications

References 38 publications

Single Nucleotide Polymorphism of Padi4 Gene )Rs11203367( in A Sample of Rheumatoid Arthritis Iraqi Patients

Single Nucleotide Polymorphism of Padi4 Gene )Rs11203367( in A Sample of Rheumatoid Arthritis Iraqi Patients

A novel CD209 polymorphism is associated with rheumatoid arthritis patients in Taiwan

Epidemiological Trends of Rheumatoid Arthritis and PADI4, PTPN22, and HLA-DRB9 Genes Distribution in the Kazakhstan Population

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