Association Study of the PTPN22 Gene Polymorphisms with Systemic Lupus Erythematosus in Lorestan Province of Iran

Shahrokhi, Seyedeh Zahra; Nezhad, Seyed Reza Kazemi; Ahmadi, Sharam Baharvand; Akhoond, Mohammad Reza

doi:10.5812/gct.12023

Cited by 2 publications

(1 citation statement)

References 27 publications

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“…Until now, various genes such as HLA-DR, PTPN22, STAT4, and others have been reported to be associated with the ability to develop the immune and inflammatory responses in SLE so that some of these loci also affect the severity of the disease in addition to susceptibility to the disease. For example, the STAT4 gene which is a genetic risk factor for SLE is also associated with the severity of the disease (3,9). The STAT4 (signal transducer and activator of transcription 4) protein which belongs to the STAT proteins family includes STAT1, 2, 3, 4, 5a, 5b, and 6 members (10).…”

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confidence: 99%

Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

Izadkhasti

Nezhad

Akhoond

2018

J Shahrekord Univ Med Sci

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Background and aims: Systemic lupus erythematosus (SLE) is a polygenic, inflammatory disease with a complex genetic inheritance that affects almost all the organs and systems of the host body. According to studies, STAT4 is a susceptible gene that can participate in the development of SLE in different populations. The aim of this study was to show the association between rs7582694 single nucleotide polymorphism with increased risk of SLE disease and two serological symptoms of the disease (i.e., anti-dsDNA and ANA) in the population residing in Lorestan province. Methods: The present study was conducted as a case control research. In this study, the prevalence of STAT4 gene G/C (rs7582694) single nucleotide polymorphism (SNP) in the patients with SLE (n=122) and in control group (n=127) was investigated among a sample population from Lorestan province. This SNP was genotyped based on using two methods including PCR-RFLP (polymerase chain reactionrestriction fragment length polymorphism) and tetra-primer ARMS-PCR (amplification-refractory mutation system) methods. Results: According to the obtained results, the frequency of minor allele C from this SNP (related allele with the disease) as compared to the major allele G (normal allele) was significantly higher in SLE patients than the controls. In addition, it showed a significant association (odds ratio [OR] = 1.623, 95% CI = 1.111-2.370, P = 0.012) with susceptibility to SLE. Moreover, a significant correlation (OR = 2.249, 95% CI = 1.031–4.904, P = 0.042) was found between the rs7582694 CC genotype and the risk of SLE in the population of Lorestan. Conclusion: Overall, based on the results it can be concluded that there was a relationship between the STAT4 gene G/C (rs7582694) SNP and the increased risk of SLE. However, no association was observed between the above-mentioned gene and anti-dsDNA or ANA that are some of the symptoms of SLE.

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Section: Introductionmentioning

confidence: 99%

Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

Izadkhasti

Nezhad

Akhoond

2018

J Shahrekord Univ Med Sci

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Association Study of TNF-α -308 G/A (rs1800629) and -863 C/A (rs1800630) Polymorphisms with Systemic Lupus Erythematosus in the Iranian Lor Population

2022

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Background: Systemic lupus erythematosus (SLE) is caused by a combination of environmental and genetic factors; studying the association between regulatory genes and this disease may determine the genetic causes of interfering with SLE. In different populations, studies have shown that the tumor necrosis factor α (TNF-α) gene (as a candidate gene) can contribute to the formation and progression of lupus disease. Objectives: This study aimed to indicate the possible association between the increased rate of SLE hazard and 2 single-nucleotide polymorphisms (SNPs) of rs1800629 and rs1800630 genetic polymorphisms in the TNF-α promoter gene in the Lor population. Methods: According to the American College of Rheumatology (ACR) criteria, 120 unrelated SLE patients and 120 healthy controls with no family or personal history of autoimmune diseases were selected. DNA was genotyped for the TNF-α promoter (-308 G/A and -863 C/A) by the tetra-primer amplification-refractory mutation system (tetra-primer ARMS)–polymerase chain reaction (PCR) method. Results: The frequency difference between allele A (mutant allele) and allele C (normal allele) at position -863 of the TNF-α promoter gene (odds ratio [OR] = 3.426; 95% CI, 1.985 - 5.914) was notably higher in SLE patients than in control subjects. Also, a significant relation was obtained among the rs1800830 AA genotype and increased risk of SLE (OR = 4.489; 95% CI, 2.464 - 8.177; P < 0.0001). Our results for rs1800629 at position -308 were not remarkably different. Conclusions: We found a significant correlation between allelic and genotype frequencies between rs1800830 (-863 C/A) TNF-α SNP and SLE in our study. However, no significant correlation was observed between the rs1800629 (-308 G/A) TNF-α promoter and the increase of SLE hazard in the Lor population. No remarkable association was obtained between TNF-α gene rs1800629 (-308 G/A) and rs1800630 (-863 C/A) SNPs and anti-double-stranded DNA (anti-dsDNA) or antinuclear antibody (ANA), which are some of the symptoms of SLE.

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Association Study of the PTPN22 Gene Polymorphisms with Systemic Lupus Erythematosus in Lorestan Province of Iran

Cited by 2 publications

References 27 publications

Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

Association Study of TNF-α -308 G/A (rs1800629) and -863 C/A (rs1800630) Polymorphisms with Systemic Lupus Erythematosus in the Iranian Lor Population

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