Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility
Abstract Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular disease (CVD) deaths in the USA and around the globe. Due to the complex nature, progression, inherent genetic makeup, and heterogeneity of CVDs, personalized treatments are believed to be critical...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-06-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-023-00498-0 |
| _version_ | 1797811433570828288 |
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| author | Kush Ketan Patel Cynthia Venkatesan Habiba Abdelhalim Saman Zeeshan Yuichiro Arima Suvi Linna-Kuosmanen Zeeshan Ahmed |
| author_facet | Kush Ketan Patel Cynthia Venkatesan Habiba Abdelhalim Saman Zeeshan Yuichiro Arima Suvi Linna-Kuosmanen Zeeshan Ahmed |
| author_sort | Kush Ketan Patel |
| collection | DOAJ |
| description | Abstract Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular disease (CVD) deaths in the USA and around the globe. Due to the complex nature, progression, inherent genetic makeup, and heterogeneity of CVDs, personalized treatments are believed to be critical. To improve the deciphering of CVD mechanisms, we need to deeply investigate well-known and identify novel genes that are responsible for CVD development. With the advancements in sequencing technologies, genomic data have been generated at an unprecedented pace to foster translational research. Correct application of bioinformatics using genomic data holds the potential to reveal the genetic underpinnings of various health conditions. It can help in the identification of causal variants for AF, HF, and other CVDs by moving beyond the one-gene one-disease model through the integration of common and rare variant association, the expressed genome, and characterization of comorbidities and phenotypic traits derived from the clinical information. In this study, we examined and discussed variable genomic approaches investigating genes associated with AF, HF, and other CVDs. We collected, reviewed, and compared high-quality scientific literature published between 2009 and 2022 and accessible through PubMed/NCBI. While selecting relevant literature, we mainly focused on identifying genomic approaches involving the integration of genomic data; analysis of common and rare genetic variants; metadata and phenotypic details; and multi-ethnic studies including individuals from ethnic minorities, and European, Asian, and American ancestries. We found 190 genes associated with AF and 26 genes linked to HF. Seven genes had implications in both AF and HF, which are SYNPO2L, TTN, MTSS1, SCN5A, PITX2, KLHL3, and AGAP5. We listed our conclusion, which include detailed information about genes and SNPs associated with AF and HF. |
| first_indexed | 2024-03-13T07:22:35Z |
| format | Article |
| id | doaj.art-c25b45673c984a8c8c7d08a965637a32 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-03-13T07:22:35Z |
| publishDate | 2023-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-c25b45673c984a8c8c7d08a965637a322023-06-04T11:34:03ZengBMCHuman Genomics1479-73642023-06-0117113610.1186/s40246-023-00498-0Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibilityKush Ketan Patel0Cynthia Venkatesan1Habiba Abdelhalim2Saman Zeeshan3Yuichiro Arima4Suvi Linna-Kuosmanen5Zeeshan Ahmed6Rutgers Institute for Health, Health Care Policy and Aging Research, Rutgers UniversityRutgers Institute for Health, Health Care Policy and Aging Research, Rutgers UniversityRutgers Institute for Health, Health Care Policy and Aging Research, Rutgers UniversityRutgers Cancer Institute of New Jersey, Rutgers UniversityDevelopmental Cardiology Laboratory, International Research Center for Medical Sciences, Kumamoto UniversityA. I. Virtanen Institute for Molecular Sciences, University of Eastern FinlandDepartment of Genetics and Genome Sciences, UConn HealthAbstract Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular disease (CVD) deaths in the USA and around the globe. Due to the complex nature, progression, inherent genetic makeup, and heterogeneity of CVDs, personalized treatments are believed to be critical. To improve the deciphering of CVD mechanisms, we need to deeply investigate well-known and identify novel genes that are responsible for CVD development. With the advancements in sequencing technologies, genomic data have been generated at an unprecedented pace to foster translational research. Correct application of bioinformatics using genomic data holds the potential to reveal the genetic underpinnings of various health conditions. It can help in the identification of causal variants for AF, HF, and other CVDs by moving beyond the one-gene one-disease model through the integration of common and rare variant association, the expressed genome, and characterization of comorbidities and phenotypic traits derived from the clinical information. In this study, we examined and discussed variable genomic approaches investigating genes associated with AF, HF, and other CVDs. We collected, reviewed, and compared high-quality scientific literature published between 2009 and 2022 and accessible through PubMed/NCBI. While selecting relevant literature, we mainly focused on identifying genomic approaches involving the integration of genomic data; analysis of common and rare genetic variants; metadata and phenotypic details; and multi-ethnic studies including individuals from ethnic minorities, and European, Asian, and American ancestries. We found 190 genes associated with AF and 26 genes linked to HF. Seven genes had implications in both AF and HF, which are SYNPO2L, TTN, MTSS1, SCN5A, PITX2, KLHL3, and AGAP5. We listed our conclusion, which include detailed information about genes and SNPs associated with AF and HF.https://doi.org/10.1186/s40246-023-00498-0GenesGenetic lociHeart failureAtrial fibrillationCardiovascular diseasesGenomics |
| spellingShingle | Kush Ketan Patel Cynthia Venkatesan Habiba Abdelhalim Saman Zeeshan Yuichiro Arima Suvi Linna-Kuosmanen Zeeshan Ahmed Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility Human Genomics Genes Genetic loci Heart failure Atrial fibrillation Cardiovascular diseases Genomics |
| title | Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| title_full | Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| title_fullStr | Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| title_full_unstemmed | Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| title_short | Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| title_sort | genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility |
| topic | Genes Genetic loci Heart failure Atrial fibrillation Cardiovascular diseases Genomics |
| url | https://doi.org/10.1186/s40246-023-00498-0 |
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