Association study between CYP24A1 gene polymorphisms and cancer risk

Yi, Can; Huang, Chao; Wang, Huan; Wang, Chen; Dong, Lijuan; Gu, Xiaoqing; Feng, Xianhong; Chen, Bifeng

doi:10.1016/j.prp.2019.152735

Cited by 11 publications

(7 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Interestingly, the hub gene CYP24A1 in the salmon2 module mentioned above was downregulated in breast cancer samples, consistent with numerous previous reports ( 19 ). CYP24A1 was an essential gene in regulation of vitamin D. It had been reported to play an important role in enhancing immune activity and inhibiting tumorigenesis ( 20 , 21 ). In order to further decipher the molecular mechanism of CYP24A1 , we identified three known breast cancer–related SNPs (rs4909959, rs2209314, rs22762941) according to the SNP4Disease database ( 22 , 23 ).…”

Section: Resultsmentioning

confidence: 99%

Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer

et al. 2021

View full text Add to dashboard Cite

BackgroundBreast cancer (BRCA) is a malignant tumor with a high mortality rate and poor prognosis in patients. However, understanding the molecular mechanism of breast cancer is still a challenge.Materials and MethodsIn this study, we constructed co-expression networks by weighted gene co-expression network analysis (WGCNA). Gene-expression profiles and clinical data were integrated to detect breast cancer survival modules and the leading genes related to prognostic risk. Finally, we introduced machine learning algorithms to build a predictive model aiming to discover potential key biomarkers.ResultsA total of 42 prognostic modules for breast cancer were identified. The nomogram analysis showed that 42 modules had good risk assessment performance. Compared to clinical characteristics, the risk values carried by genes in these modules could be used to classify the high-risk and low-risk groups of patients. Further, we found that 16 genes with significant differential expressions and obvious bridging effects might be considered biological markers related to breast cancer. Single-nucleotide polymorphisms on the CYP24A1 transcript induced RNA structural heterogeneity, which affects the molecular regulation of BRCA. In addition, we found for the first time that ABHD11-AS1 was significantly highly expressed in breast cancer.ConclusionWe integrated clinical prognosis information, RNA sequencing data, and drug targets to construct a breast cancer–related risk module. Through bridging effect measurement and machine learning modeling, we evaluated the risk values of the genes in the modules and identified potential biomarkers for breast cancer. The protocol provides new insight into deciphering the molecular mechanism and theoretical basis of BRCA.

show abstract

Section: Resultsmentioning

confidence: 99%

Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Side-chain hydroxylation results in calcitric acid and other metabolites, which are excreted in the bile. In addition to the effect of rs6022999 on LTPA [ 35 ], it has also been associated with an increased risk of liver [ 36 ], lung [ 36 ] and colorectal [ 37 ] cancers and hepatitis C infection.…”

Section: Discussionmentioning

confidence: 99%

Genetic Background of Acute Heart Rate Response to Exercise

Pikó,

Al Ashkar,

Kovács

et al. 2024

IJMS

View full text Add to dashboard Cite

The acute heart rate response (AHRR) to physical activity, which refers to the change in heart rate during and after exercise, has been associated with cardiovascular and all-cause mortality. Previous studies have shown that AHRR is significantly determined by genetics in addition to environmental and lifestyle factors. The aim of this study was to investigate the genetic background of AHRR by analysing ten single nucleotide polymorphisms (SNPs) associated with leisure-time physical activity (LTPA) in 620 samples from the Hungarian population. The AHRR can be characterised as the difference between post-exercise and resting heart rate, i.e., the delta heart rate (ΔHR) defined by the YMCA 3 min step test, with a lower value indicating better cardiovascular fitness. The association of SNPs with ΔHR was analysed both separately and in combination using an optimised polygenic score (oPGS). The results showed that five SNPs (rs10252228, rs459465, rs6022999, rs8097348, and rs12405556) had at least nominally significant (p < 0.05) individual associations with ΔHR. After optimizing the PGS, a cumulative effect was observed for eight SNPs (rs6022999, rs12405556, rs459465, rs10252228, rs8097348, rs10887741, rs12612420, and rs7023003) that had a strong and statistically significant association with ΔHR (B = −2.51, 95% CI: −3.46–−1.76; p = 2.99 × 10−9). Of the four main domains of physical activity, the oPGS showed a significant positive association only with LTPA (B = 84.60; 95%CI: 25.23–143.98; p = 0.005). In conclusion, our results suggest that the SNPs we investigated influence individual leisure-time physical activity, mediated by their effects on the acute heart rate response.

show abstract

“…SLC15A3 has been postulated by Song et al as a prognostic biomarker and target in lung adenocarcinoma [ 31 ]. Yi et al reported that overexpression of CYP24A1 plays an essential role in enhancing immune activity and inhibiting tumorigenesis [ 102 ]. Opposite, PPP1R1C has been linked by Liu et al with the progression and resistance to temozolomide therapy in glioblastoma [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

Increased Expression of the RBPMS Splice Variants Inhibits Cell Proliferation in Ovarian Cancer Cells

Rabelo-Fernández

Noriega-Rivera

Santana‐Rivera

et al. 2022

IJMS

View full text Add to dashboard Cite

RNA-Binding Protein with Multiple Splicing (RBPMS) is a member of family proteins that bind to nascent RNA transcripts and regulate their splicing, localization, and stability. Evidence indicates that RBPMS controls the activity of transcription factors associated with cell growth and proliferation, including AP-1 and Smads. Three major RBPMS protein splice variants (RBPMSA, RBPMSB, and RBPMSC) have been described in the literature. We previously reported that reduced RBPMS levels decreased the sensitivity of ovarian cancer cells to cisplatin treatment. However, little is known about the biological role of the RBPMS splice variants in ovarian cancer cells. We performed RT-PCR and Western blots and observed that both RBPMSA and RBPMSC are reduced at the mRNA and protein levels in cisplatin resistant as compared with cisplatin sensitive ovarian cancer cells. The mRNA and protein levels of RBPMSB were not detectable in any of the ovarian cancer cells tested. To better understand the biological role of each RBPMSA and RBPMSC, we transfected these two splice variants in the A2780CP20 and OVCAR3CIS cisplatin resistant ovarian cancer cells and performed cell proliferation, cell migration, and invasion assays. Compared with control clones, a significant reduction in the number of colonies, colony size, cell migration, and invasion was observed with RBPMSA and RBPMSC overexpressed cells. Moreover, A2780CP20-RBPMSA and A2780CP20-RBPMSC clones showed reduced senescence-associated β-galactosidase (β-Gal)-levels when compared with control clones. A2780CP20-RBPMSA clones were more sensitive to cisplatin treatment as compared with A2780CP20-RBPMSC clones. The A2780CP20-RBPMSA and A2780CP20-RBPMSC clones subcutaneously injected into athymic nude mice formed smaller tumors as compared with A2780CP20-EV control group. Additionally, immunohistochemical analysis showed lower proliferation (Ki67) and angiogenesis (CD31) staining in tissue sections of A2780CP20-RBPMSA and A2780CP20-RBPMSC tumors compared with controls. RNAseq studies revealed many common RNA transcripts altered in A2780CP20-RBPMSA and A2780CP20-RBPMSC clones. Unique RNA transcripts deregulated by each RBPMS variant were also observed. Kaplan–Meier (KM) plotter database information identified clinically relevant RBPMSA and RBPMSC downstream effectors. These studies suggest that increased levels of RBPMSA and RBPMSC reduce cell proliferation in ovarian cancer cells. However, only RBPMSA expression levels were associated with the sensitivity of ovarian cancer cells to cisplatin treatment.

show abstract

Association study between CYP24A1 gene polymorphisms and cancer risk

Cited by 11 publications

References 21 publications

Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer

Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer

Genetic Background of Acute Heart Rate Response to Exercise

Increased Expression of the RBPMS Splice Variants Inhibits Cell Proliferation in Ovarian Cancer Cells

Contact Info

Product

Resources

About