Dataset Information

Correlation between protein kinase catalytic subunit alpha-1 gene rs13361707 polymorphism and gastric cancer susceptibility in asian populations.

ABSTRACT: A single nucleotide polymorphism (SNP) of the protein kinase catalytic subunit alpha-1 gene (PRKAA1) that confers susceptibility to gastric cancer (GC) was identified by genome-wide association in several case-control studies. However, the results remained controversial and ambiguous. Therefore, we performed a larger meta-analysis to confirm this association. We searched the PubMed, Embase, WanFang, and CNKI databases, without any restriction on language, covering all papers published until Feb 22, 2017. Overall, 14 case-control studies with 14,485 cases and 14,792 controls were retrieved based on the search criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to quantify the strength of the association. Publication bias was assessed by Egger's and Begg's tests. We found that the PRKAA1 rs13361707 C/T polymorphism had no association with GC risk in any of the pooled genetic models (for example, the T-allele vs. C-allele allelic contrast model yielded the following estimates: OR = 0.87, 95% CI = 0.73-1.05, Pheterogeneity = 0.000). Furthermore, in analyses stratified by either source of control or geographical origin of subjects, a statistically significant inverse relationship was detected between PRKAA1 rs13361707 C/T polymorphism and GC risk. No obvious evidence of publication bias was detected in the pooled meta-analysis. Furthermore, we observed that individuals carrying T-allele (TT or TC) genotypes had a lower expression of PRKAA1. Our present study indicated that PRKAA1 rs13361707 C/T was not significantly associated with GC risk, despite few positive results in the subgroups.

SUBMITTER: Ni J

PROVIDER: S-EPMC5620262 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Correlation between protein kinase catalytic subunit alpha-1 gene rs13361707 polymorphism and gastric cancer susceptibility in asian populations.

Ni Jianfeng J Shen Nan N Tang Jilei J Ren Kewei K

Oncotarget 20170718 40

A single nucleotide polymorphism (SNP) of the protein kinase catalytic subunit alpha-1 gene (<i>PRKAA1</i>) that confers susceptibility to gastric cancer (GC) was identified by genome-wide association in several case-control studies. However, the results remained controversial and ambiguous. Therefore, we performed a larger meta-analysis to confirm this association. We searched the PubMed, Embase, WanFang, and CNKI databases, without any restriction on language, covering all papers published unt ...[more]

PMID: 28978122

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Project description:BACKGROUND:Currently, several studies have demonstrated that PRKAA1 polymorphisms conduce to the development of cancer. PRKAA1 gene encodes the AMP-activated protein kinase summit-?1, and plays an important role in cell metabolism. Thus, we performed a systematic review and meta-analysis of all enrolled eligible case-control studies to obtain a precise correlation between PRKAA1 polymorphism and cancer susceptibility. METHODS:Extensive retrieve was performed in Web of Science, Google Scholar, PubMed, EMbase, CNKI and Wanfang databases up to August 26, 2018. Odds ratios (ORs) and 95% CIs were performed to evaluate the overall strength of the associations in five models, as well as in subgroup analyses, stratified by ethnicity, cancer type or source of control. Q-test, Egger's test and Begg's funnel plot were applied to evaluate the heterogeneity and publication bias. In-silico analysis was performed to demonstrate the relationship of PRKAA1 expression correlated with cancer tissues and survival time. RESULTS:Twenty-two case-control studies from 14 publications were enrolled, with 17,068 cases and 20,871 controls for rs13361707, and 2514 cases and 3193 controls for rs10074991. Overall, we identified that the PRKAA1 rs13361707 polymorphism is not significantly associated with cancer susceptibility under all five genetic models. For rs10074991, we revealed a significant decrease risk in allelic comparison model (B vs. A: OR?=?0.774, 95% CI?=?0.642-0.931, PAdjust?=?3.376*10-?2), heterozygote comparison model (BA vs. AA: OR?=?0.779 95%CI?=?0.691-0.877, PAdjust?=?9.86*10-?10;), and dominant genetic model (BB?+?BA vs. AA: OR?=?0.697 95%CI?=?0.533-0.912, PAdjust?=?4.211*10-?2;). Evidence from TCGA database and GTEx projects indicated that the expression of PRKAA1 in gastric cancer tissue is higher, compared to normal stomach tissue, as well as it in breast cancer and esophageal squamous cell carcinoma. However, the Kaplan-Meier estimate showed that there is no significant difference of OS and RFS between the low and high PRKAA1 TPM groups in gastric cancer, breast cancer, and esophageal carcinoma. CONCLUSIONS:To sum up, PRKAA1 rs13361707 polymorphism is not participant with the increased risk of cancer, while the A allele of PRKAA1 rs10074991 revealed a significant decrease risk.

Project description:Bronchopulmonary neuroendocrine tumours (BP-NETs) comprise a large spectrum of tumours including typical carcinoids (TCs), atypical carcinoids (ACs), large-cell neuroendocrine carcinomas (LCNECs) and small-cell lung carcinomas (SCLCs) that exhibit considerably different biological aggressiveness and clinical behaviours. The phosphatidylinositol-3-kinase α catalytic subunit (PIK3CA) gene is known to be involved in the pathogenesis of several types of human cancers through gene amplification, deletions or somatic missense mutations within the helical and catalytic domains. However, the PIK3CA gene status in BP-NETs has yet to be explored. This study aimed to investigate the PIK3CA gene status in a large series of BP-NETs by direct gene sequencing and to analyse its correlation with the main clinicopathological parameters. To the best of our knowledge, we demonstrated for the first time a high frequency of somatic missense mutations (23.2%) in the PIK3CA gene in a series of 190 BP-NETs, including 75 TCs, 23 ACs, 17 LCNECs and 75 SCLCs. The frequency of the PIK3CA gene mutation in the kinase domain was higher (17.9%) than that in the helical domain (5.3%). When the mutational status of the PIK3CA gene was compared with the main clinical and pathological characteristics of the BP-NET patients, we found a significant association between PIK3CA gene mutations and BP-NET histology (p=0.011). Interestingly, the frequency of PIK3CA gene mutations increased with the biological aggressiveness of all BP-NETs, except LCNECs. In conclusion, our results suggest that PIK3CA gene mutations may play a key role in tumourigenesis and aggressiveness of BP-NETs. The PIK3CA gene may represent a favourable candidate for an effective therapeutic strategy in the treatment of patients with BP-NETs.

Project description:To investigate the association between the susceptibility to cervical cancer and the single nucleotide polymorphisms of 5 tumor necrosis factor-α promoter genes (rs361525, rs1800629, rs1800750, rs1799964, and rs673) in Chinese women. A total of 946 peripheral blood samples were collected from women of Han Ethnicity in Shandong province. Of them, 452 were diagnosed with cervical squamous cell carcinomas. The study also included a control group of 494 healthy women. The targeted single nucleotide polymorphisms were analyzed by TaqMan probe method. (1) The rate of high-risk subtype human papillomavirus infection in exfoliated cervical epithelial cells was significantly higher in patients with cervical cancer than the control group (91.4% vs 10.3%, P < .01). The rate of human papillomavirus infection was lower in patients with carcinoma in situ than those with invasive carcinoma (77.9% vs 95.4%, P < .01). (2) There was a significant difference for rs361525 genotype (CC/CT/TT) between the control, carcinoma in situ, and invasive carcinoma groups ( P < .001). Both rs1800629 and rs1799964 genotypes (both GG/GA/AA) were also different between these groups ( P < .001 and P < .001). (3) The allele frequencies of rs361525, rs1800629, and rs1799964 were significantly correlated with the diagnosis of cervical cancer. The frequency of T allele in rs361525 was significantly higher for cervical cancer group (10.8%) than control group (3.8%; odds ratio = 3.04, 95% confidence interval = 1.76-5.25, P < .01). The frequency of A allele in rs1800629 was significantly higher for cervical cancer (29.9%) than control group (14.2%; odds ratio = 2.58, 95% confidence interval = 1.87-3.56, P < .01). The frequency of A allele in rs1799964 was also higher for cervical cancer group (38.3%) than control group (16.4%; odds ratio = 1.43, 95% confidence interval = 1.07-1.91, P < .05). The rs361525, rs1800629, and rs17999645 were significantly correlated with the diagnosis of cervical cancer.

Dataset Information

Correlation between protein kinase catalytic subunit alpha-1 gene rs13361707 polymorphism and gastric cancer susceptibility in asian populations.

Publications

Correlation between protein kinase catalytic subunit alpha-1 gene rs13361707 polymorphism and gastric cancer susceptibility in asian populations.

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