Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches
Alzheimer’s disease (AD) is a major neurodegenerative disorder, including neuroinflammation, oxidative stress, synaptic dysfunction, metabolic changes, cognitive impairment, and misfolding of tau protein and amyloid beta peptide (Aß). Several genes associated with Alzheimer’s disease (AD) have been...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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EDP Sciences
2024-01-01
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| Series: | E3S Web of Conferences |
| Online Access: | https://www.e3s-conferences.org/articles/e3sconf/pdf/2024/31/e3sconf_iccsei2023_01021.pdf |
| _version_ | 1797248932325097472 |
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| author | Amukti Danang Prasetyaning Wazni Annisa Rizqita Irham Lalu Muhammad Sulistyani Nanik Ma’ruf Muhammad Adikusuma Wirawan Sarasmita Made Ary Khairi Sabiah Purwanto Barkah Djaka Suyatmi Suyatmi Siswanto Lalu Muhammad Harmain Chong Rockie |
| author_facet | Amukti Danang Prasetyaning Wazni Annisa Rizqita Irham Lalu Muhammad Sulistyani Nanik Ma’ruf Muhammad Adikusuma Wirawan Sarasmita Made Ary Khairi Sabiah Purwanto Barkah Djaka Suyatmi Suyatmi Siswanto Lalu Muhammad Harmain Chong Rockie |
| author_sort | Amukti Danang Prasetyaning |
| collection | DOAJ |
| description | Alzheimer’s disease (AD) is a major neurodegenerative disorder, including neuroinflammation, oxidative stress, synaptic dysfunction, metabolic changes, cognitive impairment, and misfolding of tau protein and amyloid beta peptide (Aß). Several genes associated with Alzheimer’s disease (AD) have been discovered recently through genome-wide association studies (GWAS). However, the relationship between many loci and the likelihood of the occurrence of AD remains unexplained. In this study, we sought to identify variants of this pathogen on different continents using genome-based methodologies and bioinformatics. We found that the variant rs138799625, rs7412, rs61762319, and rs75932628 most likely to damage Alzheimer’s. In addition, these four variants appear to affect the expression of the atp8b4, APOE, MME and TREM2 genes in whole blood tissue. Our findings suggest that these genomic variants require further research for validation in functional studies and clinical trials in Alzheimer’s patients. We conclude that the integration of genome-based databases and bioinformatics can improve our understanding of disease susceptibility, including Alzheimer’s. |
| first_indexed | 2024-04-24T20:22:26Z |
| format | Article |
| id | doaj.art-343497b74b0b4d3db33d37fa5b35f4f5 |
| institution | Directory Open Access Journal |
| issn | 2267-1242 |
| language | English |
| last_indexed | 2024-04-24T20:22:26Z |
| publishDate | 2024-01-01 |
| publisher | EDP Sciences |
| record_format | Article |
| series | E3S Web of Conferences |
| spelling | doaj.art-343497b74b0b4d3db33d37fa5b35f4f52024-03-22T07:55:39ZengEDP SciencesE3S Web of Conferences2267-12422024-01-015010102110.1051/e3sconf/202450101021e3sconf_iccsei2023_01021Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approachesAmukti Danang Prasetyaning0Wazni Annisa Rizqita1Irham Lalu Muhammad2Sulistyani Nanik3Ma’ruf Muhammad4Adikusuma Wirawan5Sarasmita Made Ary6Khairi Sabiah7Purwanto Barkah Djaka8Suyatmi Suyatmi9Siswanto Lalu Muhammad Harmain10Chong Rockie11Faculty of Pharmacy, Universitas Ahmad DahlanFaculty of Pharmacy, Universitas Ahmad DahlanFaculty of Pharmacy, Universitas Ahmad DahlanFaculty of Pharmacy, Universitas Ahmad DahlanFaculty of Pharmacy, Universitas Ahmad DahlanDepartement of Pharmacy, University of Muhammadiyah MataramDepartment of Clinical Pharmacy, College of Pharmacy, Taipei Medical UniversitySchool of Nursing, College of Nursing, Taipei Medical UniversityDepartment of Histology, Faculty of Medicine, Universitas Sebelas MaretDepartment of Histology, Faculty of Medicine, Universitas Sebelas MaretResearch Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong Science CenterDepartment of Chemistry and Biochemistry, University of California, Los AngelesAlzheimer’s disease (AD) is a major neurodegenerative disorder, including neuroinflammation, oxidative stress, synaptic dysfunction, metabolic changes, cognitive impairment, and misfolding of tau protein and amyloid beta peptide (Aß). Several genes associated with Alzheimer’s disease (AD) have been discovered recently through genome-wide association studies (GWAS). However, the relationship between many loci and the likelihood of the occurrence of AD remains unexplained. In this study, we sought to identify variants of this pathogen on different continents using genome-based methodologies and bioinformatics. We found that the variant rs138799625, rs7412, rs61762319, and rs75932628 most likely to damage Alzheimer’s. In addition, these four variants appear to affect the expression of the atp8b4, APOE, MME and TREM2 genes in whole blood tissue. Our findings suggest that these genomic variants require further research for validation in functional studies and clinical trials in Alzheimer’s patients. We conclude that the integration of genome-based databases and bioinformatics can improve our understanding of disease susceptibility, including Alzheimer’s.https://www.e3s-conferences.org/articles/e3sconf/pdf/2024/31/e3sconf_iccsei2023_01021.pdf |
| spellingShingle | Amukti Danang Prasetyaning Wazni Annisa Rizqita Irham Lalu Muhammad Sulistyani Nanik Ma’ruf Muhammad Adikusuma Wirawan Sarasmita Made Ary Khairi Sabiah Purwanto Barkah Djaka Suyatmi Suyatmi Siswanto Lalu Muhammad Harmain Chong Rockie Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches E3S Web of Conferences |
| title | Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches |
| title_full | Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches |
| title_fullStr | Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches |
| title_full_unstemmed | Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches |
| title_short | Identifying pathogenic variants associated with Alzeimer by integrating genomic databases and bioinformatics approaches |
| title_sort | identifying pathogenic variants associated with alzeimer by integrating genomic databases and bioinformatics approaches |
| url | https://www.e3s-conferences.org/articles/e3sconf/pdf/2024/31/e3sconf_iccsei2023_01021.pdf |
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