R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Kouhpayeh, H R; Hashemi, Mohammad; Hashemi, S.; Moazeni‐Roodi, Abdolkarim; Naderi, Mohammad; Sharifi-Mood, Batool; Taheri, Mohsen; Mohammadi, Mehdi; Ghavami, Saeid

doi:10.4238/2012.april.27.6

Cited by 27 publications

(26 citation statements)

References 42 publications

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“…The genomic DNA of the patients and the members of the control group were obtained from peripheral blood leukocytes using the Salting-out method [21] . The genotyping of the +1858C/T PTPN22 gene SNP (rs2476601) was performed using the tetraamplification refractory mutation system polymerase chain reaction technique, which was designed for the detection of PTPN22 R620W (rs2476601) polymorphism [21] .…”

Section: Genotyping Of the +1858c/t Ptpn22 Gene Polymorphismmentioning

confidence: 99%

“…The genotyping of the +1858C/T PTPN22 gene SNP (rs2476601) was performed using the tetraamplification refractory mutation system polymerase chain reaction technique, which was designed for the detection of PTPN22 R620W (rs2476601) polymorphism [21] . Besides, the following outer and inner primers were used: forward outer: 5'-ATTAA CCACCAATCCAACATCCAGAC-3' and reverse outer: 5'-CTTTCCCTCCACTGAGGACAAAGTT-3' and forward inner: 5'-TCTCTTTCACTTCCTACAGA TGCTCA-3' and reverse inner: 5'-AGCCTTCAAGA CCTGGCGCA-3').…”

Section: Genotyping Of the +1858c/t Ptpn22 Gene Polymorphismmentioning

confidence: 99%

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Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Abbasi¹,

Nezhad²,

Pourmahdi-Broojeni³

et al. 2017

IBJ

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Background: Single-nucleotide polymorphism (SNP) rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) has been shown to be a risk factor for different autoimmune diseases. This study explored the association of 1858 C/T SNP with rheumatoid arthritis (RA) and celiac disease (CD) in a region covering southwest of Iran. Methods: Totally, 52 patients with CD, 120 patients with RA, and 120 healthy subjects were selected. The samples were genotyped for the rs2476601 in PTPN22 gene using the tetra-amplification refractory mutation system polymerase chain reaction. Results: The frequency of +1858T risk allele was significantly increased in both RA (P=0.021, OR=2.56, 95%CI=1.19-5.47) and CD (P=0.002, OR=3.87, 95%CI=1.68-8.95) patients, as compared to the control group. However, no association was found between the +1858C/T PTPN22 gene SNP and the anticyclic citrullinated peptide and rheumatoid factor positivity in RA patients. Conclusions: PTPN22 gene could play a crucial role in people's susceptibility to certain autoimmune diseases.

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Section: Genotyping Of the +1858c/t Ptpn22 Gene Polymorphismmentioning

confidence: 99%

Section: Genotyping Of the +1858c/t Ptpn22 Gene Polymorphismmentioning

confidence: 99%

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Abbasi¹,

Nezhad²,

Pourmahdi-Broojeni³

et al. 2017

IBJ

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“…Tuberculosis (TB) is the leading cause of morbidity and mortality worldwide, in particular, in Asia and Africa [1]. According to the fifth national tuberculosis epidemiological survey in 2010 in China [2], it was estimated that about 5 million new cases of pulmonary tuberculosis (PTB) occurred in China in 2010.…”

Section: Introductionmentioning

confidence: 99%

Genetic Contribution of CISH Promoter Polymorphisms to Susceptibility to Tuberculosis in Chinese Children

et al. 2014

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Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide, particularly in developing countries. A series of candidate genes have been suggested to be associated with development of TB disease. Among them, the human Cytokine-inducible Src homology 2(SH2) domain protein (CISH) gene has been very recently reported to be involved in T cell activation and differentiation in response to Mycobacterium tuberculosis infection. Here, we studied the association between CISH promoter polymorphisms and pediatric TB. A case-control study enrolled 352 TB patients and 527 healthy controls, who were of Han Chinese ethnicity and aged from 0.2 to 18 years. CISH gene promoter SNPs rs414171, rs622502 and rs809451 were genotyped in all subjects and transcriptional activity, mRNA level, and plasma cytokine level of subjects with different genotypes were further examined. Carriers with rs414171TT homozygotes and rs809451GC heterozygotes had a 1.78-fold (95% CI,1.16–2.74) and 1.86-fold (95% CI, 1.26–2.74) excess risk of developing TB compared to those with wild-type genotypes. A greater risk of TB disease was observed in population carrying C−809451-T−414171-C−622502 haplotype (OR 3.66, 95% CI:2.12–6.32). The G−809451-A−414171-C−622502-containing CISH promoter drove a 5.43-fold increased reporter expression compared to the C−809451-T−414171-C−622502-containing counterpart in Hela cell lines (P = 0.0009). PBMCs carrying rs414171TT homozygotes and rs809451GC heterozygotes showed a reduced CISH mRNA level compared to cells carrying wild type genotypes. Individuals with the rs414171TT genotype had significantly increased IL-12p40 and IL-10 production. In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis.

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“…Tuberculosis (TB) is the leading cause of morbidity and mortality worldwide, particularly in Asia and Africa (Kouhpayeh et al, 2012). In 2006, an estimated 9.2 million new cases of TB were reported globally, resulting in 1.7 million deaths, including those of 0.7 million new cases and 0.2 million HIV-positive individuals (World Health Organization, 2008).…”

Section: Introductionmentioning

confidence: 99%

Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

Bahari

Hashemi²,

Taheri³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Susceptibility to tuberculosis may be influenced by variations in human genes. The P2X7 receptor is an ATP-gated cation channel expressed in immune cells, and it influences the release of proinflammatory cytokines from monocytes and macrophages. In the present study, we aimed to evaluate the impact of P2X7 gene rs2393799 (-762T/C) and rs1718119 (Thr348Ala) polymorphisms on patient susceptibility to pulmonary tuberculosis (PTB) in a sample of the Iranian population. This case-control study was performed using 150 PTB cases and 150 controls. P2X7 receptor polymorphisms were determined using tetra-amplification refractory mutation system-polymerase chain reaction. Genotype and allelic frequencies of the rs2393799 variant P2X7 gene polymorphisms in pulmonary tuberculosis within the P2X7 gene were significantly higher in the PTB patients than in the healthy controls. The genotypes were CC in 71, CT in 54, and TT in 25 PTB patients. The genotypes were CC in 104, CT in 40, and TT in 6 healthy controls. The results indicate a significant association between rs2393799 polymorphism of the P2X7 gene and susceptibility to PTB (CT vs CC: OR = 6.5, 95%CI = 2.5-16.9, P < 0.0001; TT vs CC: OR = 3.3, 95%CI = 1.2-8.9, P = 0.018; TC+TT vs CC: OR = 2.56, 95%CI = 1.59-4.12, P < 0.0001). The rs2393799 T allele is a risk factor for predisposition to PTB (OR = 2.53, 95%CI = 1.73-3.71, P < 0.0001). No association between the rs1718119 polymorphism and PTB was found. In conclusion, the rs2393799 polymorphism in the P2X7 gene may contribute to patient susceptibility to PTB in our study population.

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R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Cited by 27 publications

References 42 publications

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

Genetic Contribution of CISH Promoter Polymorphisms to Susceptibility to Tuberculosis in Chinese Children

Association of P2X7 gene polymorphisms with susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran

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