Genetic Variation in MDM2 and p14ARF and Susceptibility to Salivary Gland Carcinoma

Jin, Lei; Xu, Li; Song, Xuejiao; Wei, Qingyi; Sturgis, Erich M.; Li, Guojun

doi:10.1371/journal.pone.0049361

Cited by 19 publications

(16 citation statements)

References 21 publications

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“…Most studies which have looked at this relationship have found no association [15, 30, 32–34], while a case-control study of 64 salivary gland carcinoma and 127 patient controls observed a significantly increased risk among women [35]. One case-control study on genetic variation in MDM2 (murine double minute-2) and p 14 ARF and susceptibility to salivary gland carcinoma (SGC) found that the association of high-risk genotypes of MDM2 and p 14 ARF with SGC risk was pronounced among ever-drinkers compared to that among nondrinkers, suggesting a greater susceptibility to SGC in ever-drinkers [36]. MDM2 and p 14 ARF are the principal cellular regulators of p53 in response to stressors including radiation exposure and exposure to various chemical agents [37].…”

Section: Discussionmentioning

confidence: 99%

A Case-Control Study of Risk Factors for Salivary Gland Cancer in Canada

Pan

Groh

Morrison

2017

Journal of Cancer Epidemiology

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Aim. To assess the effect of various lifestyle risk factors on the risk of salivary gland cancer in Canada using data from a population-based case-control study. Methods. Data from a population-based case-control study of 132 incident cases of salivary gland cancer and 3076 population controls were collected through self-administered questionnaire and analysed using unconditional logistic regression. Results. Four or more servings/week of processed meat product was associated with an adjusted odds ratio (OR) and corresponding 95% confidence interval (CI) of 1.62 (1.02–2.58). Nonsignificantly increased ORs were also related to obesity, >7 drinks/week of alcohol consumption, and occupational exposure to radiation. Furthermore, nonsignificantly decreased ORs were found to be associated with high education level (>12 years) (OR = 0.65), high consumption of spinach/squash (OR = 0.62) and all vegetables/vegetable juices (OR = 0.75), and >30 sessions/month of recreational physical activity (OR = 0.78). Conclusions. This study suggests positive associations with consumption of processed meat, smoking, obesity, alcohol drinking, and occupational exposure to radiation as well as negative associations with higher education, consumption of spinach/squash, and physical activity, which suggest a role of lifestyle factors in the etiology of salivary gland cancer. However, these findings were based on small number of cases and were nonsignificant. Further larger studies are warranted to confirm our findings.

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Section: Discussionmentioning

confidence: 99%

A Case-Control Study of Risk Factors for Salivary Gland Cancer in Canada

Pan

Groh

Morrison

2017

Journal of Cancer Epidemiology

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“…These studies have used a candidate gene approach, in which genetic variations in or near genes thought to be important in the pathogenesis of SGC were investigated. 9-15 Recently, genome-wide association (GWA) studies have led to important discoveries of genetic factors determining complex human traits and have successfully identified hundreds of valuable susceptibility loci for many cancers. GWA studies may be especially well suited to unveil the complicated etiology of SGC.…”

Section: Introductionmentioning

confidence: 99%

Retracted: Genome‐wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes

Tang

Chen

et al. 2015

Cancer

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BACKGROUND Salivary gland carcinomas (SGCs) are a rare malignancy with unknown etiology. We aimed to identify genetic variants modifying risk of SGC and its major subtypes, adenoid cystic carcinoma (ACCA) and mucoepidermoid carcinoma (MECA). METHODS We conducted a genome-wide association study in 309 well-defined SGC cases and 535 cancer-free controls. We performed a SNP-level discovery study in non-Hispanic whites followed by a replication study in Hispanics. A logistic regression was applied to calculate odds ratios (ORs) and 95% confidence intervals (95%CIs). A meta-analysis was conducted of the results. RESULTS Genome-wide significant association with SGC in non-Hispanic whites was detected at coding SNPs in CHRNA2 (OR=8.55, 95%CI: 4.53–16.13, P = 3.6 × 10−11), OR4F15 (OR=5.26, 95%CI: 3.13–8.83, P = 3.5 × 10−10), ZNF343 (OR=3.28, 95%CI: 2.12–5.07, P = 9.1 × 10−8), and PARP4 (OR=2.00, 95%CI: 1.54–2.59, P = 1.7 × 10−7). Meta-analysis of the non-Hispanic white and Hispanic cohorts identified another genome-wide significant SNP in ELL2 (meta-OR=1.86, 95%CI: 1.48–2.34, P = 1.3 × 10−7). Risk alleles largely enriched in MECA, where the SNPs in CHRNA2, OR4F15, and ZNF343 had ORs of 15.71 (95%CI: 6.59–37.47, P = 5.2 × 10−10), 15.60 (95%CI: 6.50–37.41, P = 7.5 × 10−10), and 6.49 (95%CI: 3.36–12.52, P = 2.5 × 10−8), respectively. None of these SNPs retained significant association with ACCA. CONCLUSIONS These findings, for the first time, identify a panel of SNPs associated with SGC risk. Confirmation of these findings along with functional analysis of identified SNPs are needed.

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“…Rs2518719 is in tight LD with another variant in the gene, rs3731217 (r 2 = 0.925, D’ = 1 in Caucasian, as reported by 1000 Genomes), that lies in the first intron of the gene. This latter SNP is a well known pleiotropic susceptibility polymorphism and it has been found to be associated with increased risk of developing childhood acute lymphoblastic leukemia2829, differentiated thyroid carcinoma30 and salivary gland carcinoma31. In addition the SNP was also reported to modulate the survival of oropharingeal cancer patients32.…”

Section: Discussionmentioning

confidence: 99%

Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors

Campa

Capurso

Pastore

et al. 2016

Sci Rep

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Pancreatic neuroendocrine tumors (PNETs) are heterogeneous neoplasms which represent only 2% of all pancreatic neoplasms by incidence, but 10% by prevalence. Genetic risk factors could have an important role in the disease aetiology, however only a small number of case control studies have been performed yet. To further our knowledge, we genotyped 13 SNPs belonging to the pleiotropic CDKN2A/B gene region in 320 PNET cases and 4436 controls, the largest study on the disease so far. We observed a statistically significant association between the homozygotes for the minor allele of the rs2518719 SNP and an increased risk of developing PNET (ORhom = 2.08, 95% CI 1.05–4.11, p = 0.035). This SNP is in linkage disequilibrium with another polymorphic variant associated with increased risk of several cancer types. In silico analysis suggested that the SNP could alter the sequence recognized by the Neuron-Restrictive Silencer Factor (NRSF), whose deregulation has been associated with the development of several tumors. The mechanistic link between the allele and the disease has not been completely clarified yet but the epidemiologic evidences that link the DNA region to increased cancer risk are convincing. In conclusion, our results suggest rs2518719 as a pleiotropic CDKN2A variant associated with the risk of developing PNETs.

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Genetic Variation in MDM2 and p14ARF and Susceptibility to Salivary Gland Carcinoma

Cited by 19 publications

References 21 publications

A Case-Control Study of Risk Factors for Salivary Gland Cancer in Canada

A Case-Control Study of Risk Factors for Salivary Gland Cancer in Canada

Retracted: Genome‐wide association study identifies common genetic variants associated with salivary gland carcinoma and its subtypes

Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors

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