ArticleScientific reports2015
MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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17 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
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- Maternal genetic polymorphisms in the major mitotic checkpoint genesFrontiers in genetics · 2023Article
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- DNA methylome-wide association study of genetic risk for depression implicates antigen processing and immune responses.Genome medicine · 2022Article
- Exploring the Relationship Between Senescence and Colorectal Cancer in Prognosis, Immunity, and Treatment.Frontiers in genetics · 2022Article
- Mitotic checkpoint defects: en route to cancer and drug resistance.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2021Review
- Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma.Scientific reports · 2020Article
- CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis.BMC medical genomics · 2019Article
- miR-30a-3p Targets MAD2L1 and Regulates Proliferation of Gastric Cancer Cells.OncoTargets and therapy · 2019Article
- Multiple Molecular Targets Associated with Genomic Instability in Lung Cancer.International journal of genomics · 2019Review
- CCNA2 acts as a novel biomarker in regulating the growth and apoptosis of colorectal cancer.Cancer management and research · 2018Article
- Effects of interactions between common genetic variants and smoking on colorectal cancer.BMC cancer · 2017Article
- Decreased expression of RASSF10 correlates with poor prognosis in patients with colorectal cancer.Medicine · 2017Article
- Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The spindle assembly checkpoint (SAC) has been established as an important mechanism of driving aneuploidy, which occurs at a high frequency in the colorectal tumorigenesis. Two important components of SAC are MAD1L1 and MAD2L1, which function together in an interactive manner to initiate the checkpoint signal. We hypothesize that genetic variants in the binding domains of MAD1L1 and MAD2L1 may modulate protein structures and eventually contribute to CRC susceptibility. A case-control study including 710 CRC cases and 735 controls was performed to examine MAD1L1 Arg558His and MAD2L1 Leu84Met's conferring susceptibility to CRC. Cytokinesis-block micronucleus cytome assays were applied to assess the effect of two functional variants on chromosomal instability (CIN). Significant associations with CRC risk were observed for MAD1L1 Arg558His (OR = 1.38,95% CI: 1.09-1.75) and MAD2L1 Leu84Met in a dominant model (OR = 1.48,95% CI: 1.09-2.01). Moreover, significant multiplicative gene-smoking interactions were found in MAD1L1 Arg558His (P = 0.019) and MAD2L184 Leu/Met (P = 0.016) to enhance CRC risk. Additionally, the frequencies of lymphocytic micro-nucleated binucleated cells for MAD1L1 Arg558His polymorphism were significantly different in the exposed group (P = 0.013), but not in the control group. The study emphasized that MAD1L1 Arg558His and MAD2L1 Leu84Met can significantly interact with smoking to enhance CRC risk, and the genetic effects of MAD1L1Arg558His on CIN need to be further clarified in follow-up studies.
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