RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers

Wei, Wei; Ying, Xiaomei; Chen, Liang; Sun, Qingmei; Lu, Xiaohuan; Yang, Xia; Xu, Rubin; Zhu, Zhechen; Zhang, Dong; Tang, Qikai; Li, Li; Xie, Jiaheng; Yu, Hongzhu

doi:10.18632/aging.204076

Cited by 4 publications

(3 citation statements)

References 35 publications

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“…rs2032930/rs2032931 are intronic SNPs found in the RMI2 (recQ-mediated genome instability protein 2) gene and appeared to increase the risk of developing neuropathy. In the literature, they have been associated with genome stability, tumorigenesis, and tumor progression [27]. In the literature, we found no clue to an existing relationship between the RMI2 gene and developing neuropathy.…”

Section: Discussioncontrasting

confidence: 61%

Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes

Tordai,

Hajdú,

Rácz

et al. 2024

IJMS

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Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with long-term type 2 diabetes with neuropathy and 24 without underwent detailed neurological assessment and whole exome sequencing. Cardiovascular autonomic function was evaluated by cardiovascular reflex tests. Heart rate variability was measured by the triangle index. Sensory nerve function was estimated by Neurometer and Medoc devices. Neuropathic symptoms were characterized by the neuropathy total symptom score (NTSS). Whole exome sequencing (WES) was performed on a Thermo Ion GeneStudio S5 system determining the coding sequences of approximately 32,000 genes comprising 50 million base pairs. Variants were detected by Ion Reporter software and annotated using ANNOVAR, integrating database information from dbSNP, ClinVar, gnomAD, and OMIM. Integrative genomics viewer (IGV) was used for visualization of the mapped reads. We have identified genetic variants that were significantly associated with increased (22–49-fold) risk of neuropathy (rs2032930 and rs2032931 of recQ-mediated genome instability protein 2 (RMI2) gene), rs604349 of myosin binding protein H like (MYBPHL) gene and with reduced (0.07–0.08-fold) risk (rs917778 of multivesicular body subunit 12B (MVB12B) and rs2234753 of retinoic acid X receptor alpha (RXRA) genes). The rs2032930 showed a significant correlation with current perception thresholds measured at 5 Hz and 250 Hz for n. medianus (p = 0.042 and p = 0.003, respectively) and at 5 Hz for n. peroneus (p = 0.037), as well as the deep breath test (p = 0.022) and the NTSS (p = 0.023). The rs2032931 was associated with current perception thresholds (p = 0.003 and p = 0.037, respectively), deep breath test (p = 0.022), and NTSS (p = 0.023). The rs604349 correlated with values measured at 2000 (p = 0.049), 250 (p = 0.018), and 5 Hz (p = 0.005) for n. medianus, as well as warm perception threshold measured by Medoc device (p = 0.042). The rs2234753 showed correlations with a current perception threshold measured at 2000 Hz for n. medianus (p = 0.020), deep breath test (p = 0.040), and NTSS (p = 0.003). There was a significant relationship between rs91778 and cold perception threshold (p = 0.013). In our study, genetic variants have been identified that may have an impact on the risk of neuropathy developing in type 2 diabetic patients. These results could open up new opportunities for early preventive measures and might provide targets for new drug developments in the future.

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Section: Discussioncontrasting

confidence: 61%

Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes

Tordai,

Hajdú,

Rácz

et al. 2024

IJMS

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“…We also demonstrated the promotion role of RMI2 in EMT through western blot. A recent study showed that RMI2 was significantly correlated with tumor mutation burden, microsatellite instability, immune cell infiltration, immune checkpoints, and mismatch repair‐related genes 47 which suggests that RMI2 may influence the response to immunotherapy.…”

Section: Discussionmentioning

confidence: 99%

RMI2 is a novel prognostic and predictive biomarker for breast cancer

et al. 2022

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Background RecQ‐mediated genome instability 2 (RMI2) maintains genome stability by promoting DNA damage repair. It has been reported to accelerate the progression of several tumors. However, the functional mechanism of RMI2 in breast cancer remains unclear. Methods Gene expression profiles were obtained from TCGA, GTEx, and GEO databases. The expression of RMI2 and its prognostic value in breast cancer was explored. In addition, we calculated pooled standardized mean deviation (SMD) and performed a summary receiver operating characteristic (sROC) curve analysis to further determine RMI2 expression status and diagnostic significance. The functions and related signaling pathways were investigated based on GO and KEGG analyses. The PPI network was constructed by combining the STRING database and Cytoscape software. Subsequently, in vitro assays were conducted to detect the effect of RMI2 on the proliferation and migration of breast cancer cells. Results The expression of RMI2 was markedly upregulated in breast cancer tissues relative to that in normal tissues. Moreover, pooled SMD further confirmed the overexpression of RMI2 in breast cancer (SMD = 1.29, 95% confidence interval (CI): 1.18–1.41, p = 0.000). The sROC curve analysis result suggested that RMI2 had a relatively high diagnostic ability in breast cancer (AUC = 0.87, 95% CI: 0.84–0.90). High RMI2 expression was associated with poor prognosis. GO and KEGG analyses revealed that RMI2 was closely related to cell adhesion, various enzyme activities, and PI3K/AKT signaling pathway. PPI analysis showed that RMI2 had interactions with proteins involved in DNA damage repair. knockdown of RMI2 remarkably inhibited the proliferation and migration of breast cancer cells, while overexpression of RMI2 exerted the opposite effects. Furthermore, we identified that RMI2 accelerates the proliferation and migration of breast cancer cells via activation of the PI3K/AKT pathway. Conclusion The results suggest that RMI2 is a potential diagnostic and prognostic biomarker associated with cell proliferation and migration, and may be used as a novel therapeutic target for breast cancer in the future.

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“…The pathophysiology of cancer is exceedingly complicated, making early detection challenging. Furthermore, established diagnostic and therapeutic procedures are ineffective in the early stages of diagnosis and treatment [ [2] , [3] , [4] ]. Developments in sequencing technology and online datasets have allowed us to understand some genes' roles in human cancer [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

HLF is a promising prognostic, immunological, and therapeutic biomarker in human tumors

Ahmadi,

Mohajeri Khorasani,

Morshedzadeh

et al. 2024

Biochemistry and Biophysics Reports

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RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers

Cited by 4 publications

References 35 publications

Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes

Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes

RMI2 is a novel prognostic and predictive biomarker for breast cancer

HLF is a promising prognostic, immunological, and therapeutic biomarker in human tumors

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