Prospective study of DNA methylation at chromosome 8q24 in peripheral blood and prostate cancer risk

Barry, Kathryn Hughes; Moore, Lee E.; Sampson, Joshua N.; Koutros, Stella; Yan, Liying; Meyer, Ann; Reddy, M. P.; Oler, Andrew J.; Cook, Michael B.; Fraumeni, Joseph F.; Yeager, Meredith; Ámundadóttir, Laufey T.; Berndt, Sonja I.

doi:10.1038/bjc.2017.104

Cited by 17 publications

(21 citation statements)

References 49 publications

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“…1), is overexpressed in prostate tumor tissues. DNA methylation in MYC is associated with prostate cancer aggressiveness (16,17). The MYC oncogene works as a transcriptional activator that is involved in cell growth, apoptosis, and differentiation (8,(18)(19)(20)(21)(22).…”

Section: Introductionmentioning

confidence: 99%

Interactions ofPVT1andCASC11on Prostate Cancer Risk in African Americans

Lin

Callan

Fang

et al. 2019

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: African American (AA) men have a higher risk of developing prostate cancer than white men. SNPs are known to play an important role in developing prostate cancer. The impact of PVT1 and its neighborhood genes (CASC11 and MYC) on prostate cancer risk are getting more attention recently. The interactions among these three genes associated with prostate cancer risk are understudied, especially for AA men. The objective of this study is to investigate SNP-SNP interactions in the CASC11-MYC-PVT1 region associated with prostate cancer risk in AA men.Methods: We evaluated 205 SNPs using the 2,253 prostate cancer patients and 2,423 controls and applied multiphase (discovery-validation) design. In addition to SNP individual effects, SNP-SNP interactions were evaluated using the SNP Interaction Pattern Identifier, which assesses 45 patterns.Results: Three SNPs (rs9642880, rs16902359, and rs12680047) and 79 SNP-SNP pairs were significantly associated with prostate cancer risk. These two SNPs (rs16902359 and rs9642880) in CASC11 interacted frequently with other SNPs with 56 and 9 pairs, respectively. We identified the novel interaction of CASC11-PVT1, which is the most common gene interaction (70%) in the top 79 pairs. Several top SNP interactions have a moderate to large effect size (OR, 0.27-0.68) and have a higher prediction power to prostate cancer risk than SNP individual effects.Conclusions: Novel SNP-SNP interactions in the CASC11-MYC-PVT1 region have a larger impact than SNP individual effects on prostate cancer risk in AA men.Impact: This gene-gene interaction between CASC11 and PVT1 can provide valuable information to reveal potential biological mechanisms of prostate cancer development. reverse-reverse coding for SNP1 and SNP2. "AA_int" pattern means a monotonic risk (OR > 1) or protective (OR < 1) effect based on the selected alleles. See Supplementary Tables S2 and S3 for details. Lin et al. Acquisition of data (provided animals, acquired and managed patients, provided facilities, etc.): H.-Y. Lin, H.-Y. Tung Analysis and interpretation of data (e.g., statistical analysis, biostatistics, computational analysis):

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Section: Introductionmentioning

confidence: 99%

Interactions ofPVT1andCASC11on Prostate Cancer Risk in African Americans

Lin

Callan

Fang

et al. 2019

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…DNA methylation changes can be monitored at repetitive elements (e.g., Alu and LINE‐1 ), and is used as surrogate measures of global methylation that is associated with cancer [Neale et al, ; Barry et al, ]. In this study, we examined the methylation status of Alu and LINE‐1 and its association with levels of urinary arsenic in 84 school‐age children living in two contaminated sites located in San Luis Potosí, where high concentrations of arsenic in surface soil and household dust have been found because of important mining activities in the past [Yáñez et al, ; Carrizales et al, ].…”

Section: Introductionmentioning

confidence: 99%

DNA methylation changes in Mexican children exposed to arsenic from two historic mining areas in San Luis potosí

Alegría-Torres

Carrizales-Yáñez

Dı́az-Barriga

et al. 2016

Environ and Mol Mutagen

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Arsenic is a carcinogen and epimutagen that threatens the health of exposed populations worldwide. In this study, we examined the methylation status of Alu and long interspersed nucleotide elements (LINE-1) and their association with levels of urinary arsenic in 84 Mexican children between 6 and 12 years old from two historic mining areas in the State of San Luis Potosí, Mexico. Urinary arsenic levels were determined by atomic absorption spectrophotometry and DNA methylation analysis was performed in peripheral blood leukocytes by bisulfite-pyrosequencing. The geometric mean of urinary arsenic was 26.44 µg/g Cr (range 1.93-139.35). No significant differences in urinary arsenic or methylation patterns due to gender were observed. A positive correlation was found between urinary arsenic and the mean percentage of methylated cytosines in Alu sequences (Spearman correlation coefficient r = 0.532, P < 0.001), and a trend of LINE-1 hypomethylation was also observed (Spearman correlation coefficient r = -0.232, P = 0.038) after adjustment for sex and age. A linear regression model showed an association with log-normalized urinary arsenic for Alu (β = 1.05, 95% CI: 0.67; 1.43, P < 0.001) and LINE-1 (β = -0.703, 95% CI: -1.36; -0.38, P = 0.038). Despite the low-level arsenic exposure, a subtle epigenetic imbalance measured as DNA methylation was detected in the leukocytes of Mexican children living in two historic mining areas. Environ. Mol. Mutagen. 57:717-723, 2016. © 2016 Wiley Periodicals, Inc.

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“…Other studies have already reported aberrant methylation of repetitive sequences in blood of patients with cancer. Barry et al 32 reported Alu hypermethylation in blood of patients with prostate cancer. Additionally, both hypomethylation and hypermethylation of LINE-1 CpGs were detected in the blood of patients with pancreatic, colon, and gastric cancer 33.…”

Section: Discussionmentioning

confidence: 99%

Line-1 Hypomethylation and Mutational Status in Cutaneous Melanomas

Pramio

Pennacchi

Maria‐Engler

et al. 2016

Journal of Investigative Medicine

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Epigenetic dysregulation is an important emerging hallmark of cutaneous melanoma development. The global loss of DNA methylation in gene-poor regions and transposable DNA elements of cancer cells contributes to increased genomic instability. Long interspersed element-1 (LINE-1) sequences are the most abundant repetitive sequence of the genome and can be evaluated as a surrogate marker of the global level of DNA methylation. In this work, LINE-1 methylation levels were evaluated in cutaneous melanomas and normal melanocyte primary cell cultures to investigate their possible association with both distinct clinicopathological characteristics and tumor mutational profile. A set of driver mutations frequently identified in cutaneous melanoma was assessed by sequencing (actionable mutations in BRAF, NRAS, and KIT genes, and mutations affecting the TER T promoter) or multiplex ligation-dependent probe amplification (MLPA) (CDKN2A deletions). Pyrosequencing was performed to investigate the methylation level of LINE-1 and CDKN2A promoter sequences. The qualitative analysis showed a trend toward an association between LINE-1 hypomethylation and CDKN2A inactivation (p=0.05). In a quantitative approach, primary tumors, mainly the thicker ones (>4 mm), exhibited a trend toward LINE-1 hypomethylation when compared with control melanocytes. To date, this is the first study reporting in cutaneous melanomas a possible link between the dysregulation of LINE-1 methylation and the presence of driver mutations.

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Prospective study of DNA methylation at chromosome 8q24 in peripheral blood and prostate cancer risk

Cited by 17 publications

References 49 publications

Interactions ofPVT1andCASC11on Prostate Cancer Risk in African Americans

Interactions ofPVT1andCASC11on Prostate Cancer Risk in African Americans

DNA methylation changes in Mexican children exposed to arsenic from two historic mining areas in San Luis potosí

Line-1 Hypomethylation and Mutational Status in Cutaneous Melanomas

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