Programmed cell death 1 gene polymorphism as a possible risk for systemic lupus erythematosus in Egyptian females

El-Khair, Salwa M Abo; Sameer, W; Awadallah, Nahel W.; Shaalan, Dalia

doi:10.1177/0961203319878493

Cited by 3 publications

(5 citation statements)

References 31 publications

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“…This lack of the mutant TT genotype made it inconsistent with the HWE with the inability to detect the best model of inheritance of that SNP. A finding that was reported before on the same population by Abo El-khair et al [27] Several deviated SNPs have been detected to be out of the equation, however, they should not be excluded from the research, but additional analysis is needed on larger cohort. [28] The antitumor CD8+ T cells exhibit preferential expression of PD-1 protein leading to their exhaustion and functional impairment, which in turns lead to attenuated tumor-specific immunity with disseminating tumor progression.…”

Section: Resultsmentioning

confidence: 59%

Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.

El‐Beah

Shaalan²,

Fathi³

et al. 2022

BESPS

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Background: As being the third-most common cancer type in males and the second-most common cancer type in females worldwide, the incidence of colorectal carcinoma is increasing and associated with poor prognosis. Programmed cell death protein 1 (PD-1) gene encodes an inhibitory cell surface receptor that is thought to be implicated in influencing the cancer cells' evasion of the host immune system. The current work was conducted to evaluate the association of PD-1 single nucleotide polymorphisms, PD-1.3G/A (rs11568821) and PD-1.5 C/T (rs2227981) haplotypes with both the susceptibility and the onset of colorectal cancer in the Egyptian population. Methods and Results: The PD-1.3 G/A and, PD-1.5 C/T polymorphisms were investigated in 100 colorectal cancer patients and 100 healthy controls by allelic discrimination technique through TaqMan real-time polymerase chain reaction. The lowest overall risk of colorectal cancer was associated with the haplotype G/T while the A/T haplotype showed the highest risk among the four being insignificant. However, the A/T haplotype was significantly associated with an increased risk of the early onset disease by 4.4 times as compared to the reference haplotype G/C. Moreover, the PD1.5C/T SNP was in a significant linkage disequilibrium with PD1.3G/A SNP (D = 0.0255, D'= 0.151, r= 0.1298 and p= 0.0094). Conclusion:Among the Egyptian population, the G/T haplotype was considered protective acquiring the least risk for colorectal cancer, while the mutant A/T haplotype was not only associated with a higher risk of the disease but also with a significantly higher risk to exhibit early onset colorectal cancer.

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Section: Resultsmentioning

confidence: 59%

Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.

El‐Beah

Shaalan²,

Fathi³

et al. 2022

BESPS

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“…3 Among Egyptian patients, different genetic polymorphisms have been studied and found to be associated with SLE as polymorphisms in the gene coding for the autoimmune regulator (AIRE), type I interferon (IFN) pathway, interleukin 27, programmed cell death 1 (PD1), tumor necrosis factor (TNF-α) and IFN-γ. [4][5][6][7][8] However, the role of the human leukocyte antigen-G (HLA-G) gene has not been addressed before among Egyptian patients.…”

Section: Introductionmentioning

confidence: 99%

Immunogenetic Relationship of HLA-G 14 bp Insertion/Deletion Polymorphism and Toll-Like Receptor 9 with Systemic Lupus Erythematosus in Egyptian Patients: A Case-Control Study

Mohammed¹,

Kady²,

Boghdadi³

et al. 2022

IJGM

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Introduction The level of expression of the immunoregulatory human leukocyte antigen-G (HLA-G) has been suggested to play a role in the immunopathogenesis of systemic lupus erythematosus (SLE). A 14 bp insertion/deletion (ins/del) polymorphism in the 3ˊuntranslated region of HLA-G gene may influence the level of expression. The role of Toll-like receptor 9 (TLR9) in the pathogenesis of SLE has been highlighted. Data among Egyptian patients are quite limited. Purpose To detect the association of HLA-G 14 bp ins/del gene polymorphism with the susceptibility to SLE and to correlate TLR9 serum level with disease activity among Egyptian patients. Patients and Methods A case-control study that included 102 SLE female patients and 102 healthy matched volunteers as controls was carried out. Disease activity in patients was determined using the modified Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). HLA-G 14 bp ins/del genotype was detected by polymerase chain reaction (PCR). TLR9 serum level was estimated using enzyme-linked immunosorbent assay (ELISA) technique. Results The ins/ins genotype was significantly increased among SLE patients compared to healthy subjects (58.8% vs 9.8%; odds ratio [OR] = 11.79, P < 0.001). The 14 bp ins allele was significantly more frequent in SLE patients than in healthy subjects (65.7% vs 27.9%, respectively) and significantly associated with an increased risk of SLE (OR 4.94, P < 0.001). The mean TLR9 serum level showed a significant increase in SLE patients compared to healthy subjects (397.04±137.86 vs 195.22±45.14 ng/L, p < 0.001) and was significantly associated with disease activity as well as to patients’ HLA-G genotypes (p < 0.001). Conclusion Among Egyptian population, HLA-G 14 bp ins/ins homozygous genotype and ins allele may constitute a potential risk for SLE susceptibility, while TLR9 serum level is significantly associated with disease activity.

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“…PDCD-1.3 (rs11568821) gene polymorphism has been considered to be related to an overall cancer risk [24,27] and SLE [28]. Researchers have found a decreased overall cancer risk in case of PDCD-1.3, variant TC [24,27].…”

Section: Introductionmentioning

confidence: 99%

“…Researchers have found a decreased overall cancer risk in case of PDCD-1.3, variant TC [24,27]. PD1.3GG genotype and G allele have been significantly more frequent in SLE patients [28]. Prokunina et al have found that this genetic variant would affect PD-1 mRNA level by changing the binding affinity of RUNX (a transcriptional factor of PD-1) [29].…”

Section: Introductionmentioning

confidence: 99%

“…PDCD-1.5 (rs2227981) variant TT has been associated with a decreased risk of cancer [24,27]. CT genotype has been significantly lower in breast cancer women [21], whereas an increase in the risk of cervical [30], T-allele of rs2227981 gene polymorphism reduced risk of epithelial ovarian cancer [22], lung [31], gastric [32], colon [33], thyroid cancers [34] and CC variant was significantly more frequent in patients suffering from SLE [28]. www.journals.viamedica.pl/medical_research_journal PDCD-1.6 (rs10204525) has been explored with respect to the associations between PD-1.6 gene polymorphisms and esophageal cancer [20,35], overall cancer risk [24], aplastic anemia [26], juvenile idiopathic arthritis [36] and HBV infection [37].…”

Section: Introductionmentioning

confidence: 99%

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Liquid biopsy in targeting gene polymorphism related to the response within immunocheckpoint inhibitors therapeutic regimen

Boguszewska-Byczkiewicz

Kolacinska-Wow

2021

Medical Research Journal

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Immunotherapy belongs to the group of targeted therapies; it is based on natural immune mechanisms which axis can be promoted or blocked at appropriate points. Breast cancer is the world's most common cancer among women and in March 2019 the FDA approved the first immunopharmaceutical Atezolizumab, for the treatment of breast cancer. So far, the only registered marker for classification for checkpoint inhibitor therapy has been the presence of PD-L1 receptor expression in tumour cells.A comprehensive search of the literature to elucidate the correlation between PD-1/PD-L1 single nucleotide polymorphism (SNP) and cancer, especially breast cancer or other diseases susceptibility and PD-1/ PD-L1 expression.Seven susceptibility loci was considered: rs41386349, rs7421861, rs36084323, rs11568821, rs2227981, rs10204525, rs2227982. Three of them may be taken into account as potentially helpful in breast cancer patient treatment tailoring: rs36084323, rs2227981, rs2227982.

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Programmed cell death 1 gene polymorphism as a possible risk for systemic lupus erythematosus in Egyptian females

Cited by 3 publications

References 31 publications

Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.

Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.

Immunogenetic Relationship of HLA-G 14 bp Insertion/Deletion Polymorphism and Toll-Like Receptor 9 with Systemic Lupus Erythematosus in Egyptian Patients: A Case-Control Study

Liquid biopsy in targeting gene polymorphism related to the response within immunocheckpoint inhibitors therapeutic regimen

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