Single nucleotide polymorphisms of IL-2 , but not IL-12 and IFN - γ , are associated with increased susceptibility to chronic spontaneous urticaria

2017 ◽  
Vol 45 (4) ◽  
pp. 333-338 ◽  
Author(s):  
M. Movahedi ◽  
M. Tavakol ◽  
F. Rahmani ◽  
A.A. Amirzargar ◽  
A.Z. Bidoki ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chronic Spontaneous Urticaria ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ifn Γ ◽  
Increased Susceptibility

scholarly journals Association of PTPN22 single nucleotide polymorphisms with chronic spontaneous urticaria

2021 ◽  
Vol 49 (2) ◽  
pp. 40-45
Author(s):  
Maryam Sadr ◽  
Neda Khalili ◽  
Bahareh Mohebbi ◽  
Banafsheh Mosharmovahed ◽  
Parivash Afradi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Haplotype Analysis ◽  
Tyrosine Phosphatase ◽  
Chronic Spontaneous Urticaria ◽  
Nucleotide Polymorphisms ◽  
Contributing Factors ◽  
Ptpn22 Gene ◽  
Single Nucleotide ◽  
Potential Association ◽  
Increased Susceptibility

Introduction and objectives: Chronic spontaneous urticaria (CSU) is thought to be an auto-immune disease in a subpopulation of patients. Protein tyrosine phosphatase-22 (PTPN22) polymorphisms are considered to be one of the strongest contributing factors to autoimmune diseases. In this study, we aimed to investigate the potential association of several PTPN22 single nucleotide polymorphisms (SNPs) with CSU in an Iranian population.Material and methods: A total of 93 CSU patients and 100 healthy individuals were included in this study. Five SNPs within the PTPN22 gene were analyzed using TaqMan genotyping assays. The frequency of alleles, genotypes, and haplotypes of PTPN22 SNPs (rs12760457, rs2476601, rs1310182, rs1217414, and rs33996649) was investigated.Results: A significantly higher prevalence of the rs1310182 T allele was observed among patients compared with controls [OR = 1.75 (95% CI: 1.17–2.63); P = 0.007]. In addition, the rs1310182 CC genotype and TT genotype were 0.47 and 2.06 times more common in patients, respectively (P = 0.03). Moreover, haplotype analysis demonstrated that CGCGC, CGTGC, and TGCGC (P < 0.001) were significantly associated with CSU. No significant differences were observed between the patients and controls in the other analyzed PTPN22 SNPs.Conclusions: Polymorphisms of the PTPN22 gene are associated with an increased susceptibility to CSU in the studied Iranian population.

scholarly journals Single Nucleotide Polymorphisms in CD14 and Toll-like Receptor 4 Genes in Patients with Polycystic Ovarian Syndrome

2017 ◽  
Vol 9 (4) ◽  
pp. 304-307
Author(s):  
Roya Rozati ◽  
Nazima Allauddin
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Complex Disease ◽  
Polycystic Ovarian Syndrome ◽  
Polycystic Ovary ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Ovarian Syndrome ◽  
Increased Susceptibility

ABSTRACT Introduction Polycystic ovary syndrome (PCOS) is a complex disease having genetic, immunologic, and environmental components, and candidate genes on innate immunity have been hypothesized to be involved in its etiology. We examined the possible association of CD14 and toll-like receptor 4 (TLR4) polymorphisms with PCOS. Materials and methods A total of 219 women with PCOS and 272 healthy women were recruited in the study. Their samples were genotyped for the polymorphism of CD14 and TLR4 genes. Results The distributions of genotypes of both polymorphisms were found to be significant in women with PCOS compared with controls. The distributions of alleles were also found to be predominant in PCOS compared with controls. Conclusion Polymorphisms in CD14-159C>T and TLR4-299A>G significantly increased susceptibility to PCOS. Further studies with larger sample sizes are warranted to confirm these findings. How to cite this article Allauddin N, Rozati R. Single Nucleotide Polymorphisms in CD14 and Toll-like Receptor 4 Genes in Patients with Polycystic Ovarian Syndrome. J South Asian Feder Obst Gynae 2017;9(4):304-307.

scholarly journals Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population

2020 ◽  
Author(s):  
Sara Hanaei ◽  
Sina Abdollahzade ◽  
Maryam Sadr ◽  
Mohammad Hossein Mirbolouk ◽  
Ehsan Fattahi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Intervertebral Disc ◽  
Disc Degeneration ◽  
Intervertebral Disc Degeneration ◽  
Interleukin 2 ◽  
Interleukin 12 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ifn Γ

Abstract Background: Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting low back pain or radicular pain in a variety of severity. As the inflammatory changes in discs, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been proposed to play role in pathophysiology of disease. This study has been conducted to elucidate the role of IL-2, IL-12, and IFN-γ single nucleotide polymorphisms (SNP) in this disease.Method: 76 patients diagnosed with IVDD and 140 healthy subjects who have complied with eligibility criteria have been included. A total volume of 5cc peripheral blood of each participant has been used for investigating the IL-2 +166G/T, IL-2 -330G/T, IL-12 -1188A/C, and IFN-γ +847A/T single nucleotide polymorphisms (SNP) through PCR-SSP method.Results: The ‘TG’ and ‘TT’ genotypes of IL-2 -330G/T polymorphism have been significantly more common among patients and healthy controls respectively and therefore were associated with disease. The ‘GT’ and ‘TT’ haplotypes of IL-2, comprised of -330G/T, and +166G/T, have been also more common among patients and controls respectively.Conclusion: This study has indicated significant role of IL-2 genotypes and haplotypes in IVDD, as they have been differently distributed in cases and controls. Therefore, alteration in IL-2 gene structure could play an important role in pathophysiology of IVDD through alteration of its function.

Association of T Helper 1 Cytokine Gene Single Nucleotide Polymorphisms with Ulcerative Colitis and Crohn’s Disease

2018 ◽  
Vol 37 (1) ◽  
pp. 21-32 ◽  
Author(s):  
Nasser Ebrahimi Daryani ◽  
Maryam Sadr ◽  
Samaneh Soltani ◽  
Amene Saghazadeh ◽  
Shirin Moossavi ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Protective Factor ◽  
Interleukin 12 ◽  
Nucleotide Polymorphisms ◽  
T Helper ◽  
Single Nucleotide ◽  
Ifn Γ

Background: Inflammatory bowel disease (IBD) mostly comprised of Crohn’s disease (CD) and ulcerative colitis (UC) is a condition arising from the combined effects of genetic, environmental, and immunological factors. IBD is associated with inflammation and altered cytokine profile. Objective: This study was aimed at assessing the association between T helper type 1 (Th1) cytokine polymorphisms (interferon gamma [IFN-γ] +874 A/T, interleukin-12 [IL-12] –1188 A/C, IL-2 –330 G/T, IL-2 +166 G/T) and susceptibility to and clinical features of IBD. Methods: The study population was composed of 75 IBD patients (40 CD patients and 35 UC patients) and 140 healthy controls. Genotyping was performed using polymerase chain reaction with sequence-specific primers. Results: The A allele of IFN-γ +874 polymorphism was overrepresented in the whole population of patients with IBD (OR 1.63; 95% CI 1.08–2.47; p = 0.020) and as well in the subpopulation of patients with CD (OR 2.14; 95% CI 1.26–3.63; p = 0.004), but not in UC. Multiple pairwise comparisons indicated that genotypes of single nucleotide polymorphisms (SNPs) within the IL-2 and IFN-γ genes are correlated with IBD, CD, and UC, while neither allele nor genotype frequency of th1 IL-12 –1188 polymorphism was associated with IBD, CD, or UC. Haplotype analysis also revealed that the presence of IL-2 –330/+166 TG haplotype versus the remaining haplotypes (GG, TT, and GT) is a protective factor against IBD (OR 0.62; p = 0.046). Conclusions: The present study reports (for the first time) significant associations between SNPs within the IFN-γ and IL-2 genes and IBD.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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