Identification of micro RNA from common copy number variants as risk factors for CAKUT
Authors
Životić, IvanMitrović, Kristina
Kolić, Ivana
Seke, Mariana
Živković, Maja
Stanković, Aleksandra
Jovanović, Ivan
Conference object (Published version)
Metadata
Show full item recordAbstract
Introduction: Congenital anomalies of the kidney and urinary tracts(CAKUT) are a diverse spectrum of defects with complex etiology and not fully explained genetic background. miRNA-containing copy number variants (CNVs) are described as genetic risk factor for the disease development. We aimed to identify miRNAs with the maximum regulatory coverage of previously reported differentially expressed genes in CAKUT tissue compared to controls and bioinformatically characterize a set of these miRNAs which are located in common CNVs. Methods: Differentially expressed genes were identified from ureter tissue transcriptome open data GSE83946 from 15 CAKUT patients and 7 healthy controls, generated in house previously. miRPathDB v2.0 was used for identification of miRNAs with maximum coverage of DEGs(miRNAs which complimentarily regulate all DEGs). Mapping of maximum coverage miRNAs onto common CNVs (frequency >0.2) was performed using UCSC genome browser and gnomAD database. miRNA mapping commo...n CNVs were further bioinformatically analyzed using miRPathDB v2.0. Results: In a maximum coverage set of 50 miRNAs interacting with DEGs in CAKUT, we have identified 3 miRNA geneslocated in the common CNVs(hsa-miR-663b, hsa-miR-3180-3p and hsa-miR-1302). Using Reactome database we identified all three miRNAsto be significantly enriched in the pathway Neuronal System: -log(p-value)>2.326 for hsa-miR-1302; -log(p-value)>1.556 for hsa-miR-3180-3p; and -log(pvalue)>1.703 for hsa-miR-663b. Conclusion: CAKUT is characterized with variable penetrability and expressivity and often followed with other comorbiditiessuch as neurodevelopmental disorders. miRNAsinvolved in DEG networks and prone to CNV effects could present modulating factors of the disease phenotype. Further studies should provide additional evidence about hsa-miR-1302, hsa-miR-3180-3p and hsa-miR-663b involvements in CAKUT etiology
Keywords:
CAKUT / CNV / microRNA / Microarray / Bioinformatic analysisSource:
CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts, 2023, 62-62Funding / projects:
- MiFaDriCa - Identification of Cnv-Mirnas As Genetic Drivers and Risk Factors for Congenital Anomalies of the Kidney and Urinary Tract (Cakut) (RS-ScienceFundRS-Promis-6066923)
Note:
- The Second Congress of Molecular Biologists of Serbia; October 6-8, Belgrade, 2023.
Collections
Institution/Community
VinčaTY - CONF AU - Životić, Ivan AU - Mitrović, Kristina AU - Kolić, Ivana AU - Seke, Mariana AU - Živković, Maja AU - Stanković, Aleksandra AU - Jovanović, Ivan PY - 2023 UR - https://vinar.vin.bg.ac.rs/handle/123456789/12465 AB - Introduction: Congenital anomalies of the kidney and urinary tracts(CAKUT) are a diverse spectrum of defects with complex etiology and not fully explained genetic background. miRNA-containing copy number variants (CNVs) are described as genetic risk factor for the disease development. We aimed to identify miRNAs with the maximum regulatory coverage of previously reported differentially expressed genes in CAKUT tissue compared to controls and bioinformatically characterize a set of these miRNAs which are located in common CNVs. Methods: Differentially expressed genes were identified from ureter tissue transcriptome open data GSE83946 from 15 CAKUT patients and 7 healthy controls, generated in house previously. miRPathDB v2.0 was used for identification of miRNAs with maximum coverage of DEGs(miRNAs which complimentarily regulate all DEGs). Mapping of maximum coverage miRNAs onto common CNVs (frequency >0.2) was performed using UCSC genome browser and gnomAD database. miRNA mapping common CNVs were further bioinformatically analyzed using miRPathDB v2.0. Results: In a maximum coverage set of 50 miRNAs interacting with DEGs in CAKUT, we have identified 3 miRNA geneslocated in the common CNVs(hsa-miR-663b, hsa-miR-3180-3p and hsa-miR-1302). Using Reactome database we identified all three miRNAsto be significantly enriched in the pathway Neuronal System: -log(p-value)>2.326 for hsa-miR-1302; -log(p-value)>1.556 for hsa-miR-3180-3p; and -log(pvalue)>1.703 for hsa-miR-663b. Conclusion: CAKUT is characterized with variable penetrability and expressivity and often followed with other comorbiditiessuch as neurodevelopmental disorders. miRNAsinvolved in DEG networks and prone to CNV effects could present modulating factors of the disease phenotype. Further studies should provide additional evidence about hsa-miR-1302, hsa-miR-3180-3p and hsa-miR-663b involvements in CAKUT etiology C3 - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts T1 - Identification of micro RNA from common copy number variants as risk factors for CAKUT SP - 62 EP - 62 UR - https://hdl.handle.net/21.15107/rcub_vinar_12465 ER -
@conference{ author = "Životić, Ivan and Mitrović, Kristina and Kolić, Ivana and Seke, Mariana and Živković, Maja and Stanković, Aleksandra and Jovanović, Ivan", year = "2023", abstract = "Introduction: Congenital anomalies of the kidney and urinary tracts(CAKUT) are a diverse spectrum of defects with complex etiology and not fully explained genetic background. miRNA-containing copy number variants (CNVs) are described as genetic risk factor for the disease development. We aimed to identify miRNAs with the maximum regulatory coverage of previously reported differentially expressed genes in CAKUT tissue compared to controls and bioinformatically characterize a set of these miRNAs which are located in common CNVs. Methods: Differentially expressed genes were identified from ureter tissue transcriptome open data GSE83946 from 15 CAKUT patients and 7 healthy controls, generated in house previously. miRPathDB v2.0 was used for identification of miRNAs with maximum coverage of DEGs(miRNAs which complimentarily regulate all DEGs). Mapping of maximum coverage miRNAs onto common CNVs (frequency >0.2) was performed using UCSC genome browser and gnomAD database. miRNA mapping common CNVs were further bioinformatically analyzed using miRPathDB v2.0. Results: In a maximum coverage set of 50 miRNAs interacting with DEGs in CAKUT, we have identified 3 miRNA geneslocated in the common CNVs(hsa-miR-663b, hsa-miR-3180-3p and hsa-miR-1302). Using Reactome database we identified all three miRNAsto be significantly enriched in the pathway Neuronal System: -log(p-value)>2.326 for hsa-miR-1302; -log(p-value)>1.556 for hsa-miR-3180-3p; and -log(pvalue)>1.703 for hsa-miR-663b. Conclusion: CAKUT is characterized with variable penetrability and expressivity and often followed with other comorbiditiessuch as neurodevelopmental disorders. miRNAsinvolved in DEG networks and prone to CNV effects could present modulating factors of the disease phenotype. Further studies should provide additional evidence about hsa-miR-1302, hsa-miR-3180-3p and hsa-miR-663b involvements in CAKUT etiology", journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts", title = "Identification of micro RNA from common copy number variants as risk factors for CAKUT", pages = "62-62", url = "https://hdl.handle.net/21.15107/rcub_vinar_12465" }
Životić, I., Mitrović, K., Kolić, I., Seke, M., Živković, M., Stanković, A.,& Jovanović, I.. (2023). Identification of micro RNA from common copy number variants as risk factors for CAKUT. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts, 62-62. https://hdl.handle.net/21.15107/rcub_vinar_12465
Životić I, Mitrović K, Kolić I, Seke M, Živković M, Stanković A, Jovanović I. Identification of micro RNA from common copy number variants as risk factors for CAKUT. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts. 2023;:62-62. https://hdl.handle.net/21.15107/rcub_vinar_12465 .
Životić, Ivan, Mitrović, Kristina, Kolić, Ivana, Seke, Mariana, Živković, Maja, Stanković, Aleksandra, Jovanović, Ivan, "Identification of micro RNA from common copy number variants as risk factors for CAKUT" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia : Book of abstracts (2023):62-62, https://hdl.handle.net/21.15107/rcub_vinar_12465 .