<i>Programmed death-1</i> polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Tang, Weifeng; Chen, Shu-Chen; Chen, Yu; Lin, Jihong; Lin, Jianhua; Wang, Yafeng; Liu, Chao; Kang, Mingqiang

doi:10.18632/oncotarget.17338

Cited by 24 publications

(26 citation statements)

References 35 publications

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“…Similarly, several investigations were not able to find any association between PD-1 rs2227982 variant and susceptibility or protection to BC (Hua et al, 2011), esophageal cancer (ESCC) and non-small cell lung cancer (NSCLC) (Ma et al, 2015). Despite our results, the PD-1 rs2227982 variant was recognized as a protective factor in esophagogastric junction adenocarcinoma (Tang et al, 2017). However, the result of many studies revealed that PD-1 rs2227982 variant was a risk factor in several cancers including, leukemia , gastric cardia adenocarcinoma (Tang et al, 2017), esophageal squamous cell carcinoma (Zhou et al, 2016) and ovarian cancer .…”

Section: Discussioncontrasting

confidence: 94%

Evaluating the Possible Association between PD-1 (Rs11568821, Rs2227981, Rs2227982) and PD-L1 (Rs4143815, Rs2890658) Polymorphisms and Susceptibility to Breast Cancer in a Sample of Southeast Iranian Women

Karami

Sattarifard

Kiumarsi

et al. 2020

Asian Pac J Cancer Prev

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Introduction: Programmed cell death-1 (PD-1) and its ligands (PD-L1 and PD-L2) play a critical role as a regulator of immune-system cells, including T cell, natural killer T (NKT), monocytes, dendritic cells (DC), and B cells. Objective: This study aimed to find a possible association between PD-1 (rs11568821, rs2227981, rs2227982), and PD-L1 (rs4143815, rs2890658) variants and Breast Cancer (BC) risk in a sample of southeast Iranian women. Method: The case-control study consisted of 520 individuals, including 260 histologically confirmed BC patients and 260 non-cancer age-matching healthy women as the control group. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction (T-ARMS-PCR) methods were used for genotyping of PD-1 (rs11568821, rs2227981, rs2227982), and PD-L1 (rs4143815, rs2890658) polymorphisms. Results and Conclusion: Our findings indicated that the PD-L1 rs4143815 (G/C) variant meaningfully reduced the risk of BC. However, the PD-L1 rs2890658 variant increased the BC risk in the AC genotype as well as the A allele. Furthermore, we could not find a meaningful association between PD-1 rs11568821, PD-1 rs2227981, PD-1 rs2227982, and BC. Our team examined the possible association between variants and clinicopathological characteristics, including age, size of tumour, lymph node, histology, grade of tumour, estrogen and progesterone receptors status as well as human growth factor receptor 2 (HER2). Our findings demonstrated that PD-L1 rs4143815, PD-L1 rs2890658, PD-1 rs2227982 had a significant association with age. Additionally, we found a significant relation between PD-1 rs2227982 variant and tumour size. Statistical analyzes of PD-1 rs2227981 and PD-1 rs11568821 variants showed a meaningful relation between tumour grade and tumour stage (p=0.006), respectively.

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Section: Discussioncontrasting

confidence: 94%

Evaluating the Possible Association between PD-1 (Rs11568821, Rs2227981, Rs2227982) and PD-L1 (Rs4143815, Rs2890658) Polymorphisms and Susceptibility to Breast Cancer in a Sample of Southeast Iranian Women

Karami

Sattarifard

Kiumarsi

et al. 2020

Asian Pac J Cancer Prev

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“…After literature review, 13 SNPs with reported associations with diseases or phenotypes were retrieved, including one missense polymorphism ( rs2227982 ) and one synonymous polymorphism ( rs2227981 ) (Table ). However, only nine SNPs ( rs36084323 , rs6747063 , rs6758577 , rs7419870 , rs41386349 , rs6705653 , rs2227982 , rs2227981 and rs10204525 ) had minor allele frequency > 20% in 1000 Genomes ASN panel (Table ).…”

Section: Resultsmentioning

confidence: 99%

Genetic and epigenetic alteration of the programmed cell death 1 in rheumatoid arthritis

Tseng

Lin

et al. 2019

Eur J Clin Investigation

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Background Rheumatoid arthritis (RA) is an autoimmune disease where both genetics and epigenetics are contributing factors. In order to discover genetic and epigenetic associations with RA and its phenotypes, we analysed RNA expression, DNA variations and DNA methylation of programmed cell death 1 (PDCD1) in a cohort of RA patients and healthy controls. Methods RA patients (n = 206) and healthy controls (n = 234) were included for analysis of PDCD1 expression, PDCD1 polymorphisms and PDCD1 methylation. Differences in continuous variables between groups were compared by applying t tests. Associations between phenotypes and genotypes were evaluated with contingency tables. Sensitivity analyses were conducted to confirm the robustness of results, considering potential confounding factors and different treatment response definitions. Odds ratio (OR) and 95% confidence interval (95% CI) were calculated. Results Higher expression of PDCD1 was found in RA compared to controls (P < 0.001), with similar PDCD1 polymorphisms in RA and controls. rs36084323 decreased inadequate response to conventional synthetic disease‐modifying antirheumatic drugs (OR = 0.37, 95% CI = 0.19‐0.72, P = 0.003), and rs41386349 increased rheumatoid factor seropositivity (OR = 11.89, 95% CI = 1.57‐89.87, P = 0.003). Sensitivity analysis adjusting for further potential confounders and using different treatment response definition indicated similar results. Additionally, DNA methylation change at regulatory region of PDCD1 was detected in RA (P = 0.036). Conclusion Altogether, this was the first study to suggest genetic and epigenetic changes of PDCD1 in RA subsets and RA. Independent prospective cohorts are awaited to address the implications of these genetic and epigenetic changes in disease pathogenesis and phenotypes of RA.

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“…The etiology of EGJA may be attribute to gene and environment factors. Recent evidence suggested that the variants of immune and inflammatory response related genes could alter the risk of cancer [21,[32][33][34][35]. Considering an important role of BTLA gene in immune, we chose BTLA tagging SNPs (rs16859629, rs1982809, rs2171513 and rs3112270) and explored their effects on the development of EGJA.…”

Section: Discussionmentioning

confidence: 99%

Investigation of BTLA tagging variants with risk of esophagogastric junction adenocarcinoma

et al. 2019

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Background: Variants in B- and T-lymphocyte attenuator (BTLA) gene are likely to affect the function of BTLA protein. Methods: In the present case–control study, we selected BTLA tagging single-nucleotide polymorphisms (SNPs) (rs16859629 T>C, rs1982809 G>A, rs2171513 G>A and rs3112270 A>G) and conducted a case–control study to identify the association of BTLA SNPs with risk of esophagogastric junction adenocarcinoma (EGJA). The present study involved 1236 new incident EGJA cases and 1540 cancer-free controls. Results: The genotypes of BTLA SNPs were analyzed using a SNPscan Kit. No association was also found between the BTLA SNPs and the susceptibility of EGJA in overall comparsion. In subgroup analyses, the BTLA rs1982809 was found to be associated with an increased susceptibility of EGJA (AA versus GG: ORadjusted = 2.09, 95% CI 1.08–4.07, P = 0.030; and AA versus GA/GG: ORadjusted = 1.99, 95% CI 1.04–3.82, P = 0.039). In haplotype comparison, we identified that TAAG haplotype with the order of BTLA rs16859629, rs1982809, rs2171513 and rs3112270 SNPs might increase the susceptibility of EGJA (OR = 3.07, 95% CI = 1.41–6.71; P = 0.003). Conclusion: To conclude, the present study suggests that BTLA Trs16859629Ars1982809Ars2171513Grs3112270 haplotype may increase the susceptibility of EGJA. More studies should be conducted to evaluate whether BTLA polymorphisms may influence the susceptibility of cancer in the future.

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Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects

Cited by 24 publications

References 35 publications

Evaluating the Possible Association between PD-1 (Rs11568821, Rs2227981, Rs2227982) and PD-L1 (Rs4143815, Rs2890658) Polymorphisms and Susceptibility to Breast Cancer in a Sample of Southeast Iranian Women

Evaluating the Possible Association between PD-1 (Rs11568821, Rs2227981, Rs2227982) and PD-L1 (Rs4143815, Rs2890658) Polymorphisms and Susceptibility to Breast Cancer in a Sample of Southeast Iranian Women

Genetic and epigenetic alteration of the programmed cell death 1 in rheumatoid arthritis

Investigation of BTLA tagging variants with risk of esophagogastric junction adenocarcinoma

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