@article{Sinkala2024,
abstract = {In exploring the trans-ancestral genetic nuances of cardiovascular traits, we conducted a multi-trait genome-wide association study focusing on African (AFR) and European (EUR) populations in the UK Biobank. Here, we identify 50 genomic risk loci in the AFR population, among which 43 are novel discoveries associated with four cardiovascular traits. Similarly, we identify 829 loci in the EUR population, with 47 being novel. Also, at these loci, we identify 52 SNPs (45 novel) in the AFR population and 1,856 SNPs (957 novel) in the EUR population, among which 83 are shared, highlighting both the shared and rich diversity of the genetic underpinnings of cardiovascular disease across populations. Furthermore, functional mapping of these SNPs reveals distinct distribution patterns, with the EUR population showing a higher proportion in intronic and untranslated regions. Further, our study unravels population-specific genetic associations, identifying 3,011 genes exclusive to the EUR group and 36 distinct to the AFR group. Additionally, gene enrichment analyses show unique enriched pathways for each population, highlighting the potential influence of genetic ancestry on cardiovascular trait mechanisms and manifestation. Collectively, our results underscore the importance of population-specific approaches in studying the genetic underpinnings of cardiovascular health and further indicate potential avenues for personalised medicine and targeted interventions. {\#}{\#}{\#} Competing Interest Statement The authors have declared no competing interest. {\#}{\#}{\#} Funding Statement The funding for this project was provided by H3ABioNet, supported by the National Institutes of Health Common Fund under grant number U24HG006941. The content of this publication is solely the authors' responsibility and does not necessarily represent the official views of the National Institutes of Health. {\#}{\#}{\#} Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The study was reviewed by the UK Biobank Project and was exempt from ethical oversight by local legislation. Information on ethics approval by the UK Biobank can be found here: https://www.ukbiobank.ac.uk/learn-more-about-uk-biobank/about-us/ethics{\#}:{\~{}}:text=UK{\%}20Biobank{\%}20research{\%}20ethics{\%}20approval{\%}20UK{\%}20Biobank{\%}20has,{\%}28MREC{\%}29{\%}20as{\%}20a{\%}20Research{\%}20Tissue{\%}20Bank{\%}20{\%}28RTB{\%}29{\%}20approval. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes The datasets that support the results presented in this manuscript are available from: the UK Biobank; {\textless}https://www.ukbiobank.ac.uk{\textgreater}, dbSNP; {\textless}https://www.ncbi.nlm.nih.gov/snp{\textgreater}, and the GWAS Catalog; {\textless}https://www.ebi.ac.uk/gwas{\textgreater}.},
author = {Sinkala, Musalula and Elsheikh, Samar and Mbiyavanga, Mamana and Cullinan, Joshua and Mulder, Nicola},
doi = {10.1101/2022.02.27.22268990},
file = {:C$\backslash$:/Users/01462563/AppData/Local/Mendeley Ltd./Mendeley Desktop/Downloaded/Sinkala et al. - 2024 - Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular.pdf:pdf},
journal = {medRxiv},
keywords = {African Population Genetics,Cardiovascular Genetics,Comparative Genetics,European Population Genetics,Genome-Wide Association Studies,Multi-Trait Analyses,OA,Precision Medicine,SNP Discovery,fund{\_}not{\_}ack,original},
mendeley-tags = {OA,fund{\_}not{\_}ack,original},
month = {jan},
pages = {2022.02.27.22268990},
publisher = {Cold Spring Harbor Laboratory Press},
title = {{Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular traits in Africans and Europeans}},
url = {https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2 https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2.abstract},
year = {2024}
}

{"_id":"bkkAiLPT3dnLBLsf8","bibbaseid":"sinkala-elsheikh-mbiyavanga-cullinan-mulder-multitraitgenomewideanalysisintheukbiobankrevealsnovelanddistinctvariantsinfluencingcardiovasculartraitsinafricansandeuropeans-2024","author_short":["Sinkala, M.","Elsheikh, S.","Mbiyavanga, M.","Cullinan, J.","Mulder, N."],"bibdata":{"bibtype":"article","type":"article","abstract":"In exploring the trans-ancestral genetic nuances of cardiovascular traits, we conducted a multi-trait genome-wide association study focusing on African (AFR) and European (EUR) populations in the UK Biobank. Here, we identify 50 genomic risk loci in the AFR population, among which 43 are novel discoveries associated with four cardiovascular traits. Similarly, we identify 829 loci in the EUR population, with 47 being novel. Also, at these loci, we identify 52 SNPs (45 novel) in the AFR population and 1,856 SNPs (957 novel) in the EUR population, among which 83 are shared, highlighting both the shared and rich diversity of the genetic underpinnings of cardiovascular disease across populations. Furthermore, functional mapping of these SNPs reveals distinct distribution patterns, with the EUR population showing a higher proportion in intronic and untranslated regions. Further, our study unravels population-specific genetic associations, identifying 3,011 genes exclusive to the EUR group and 36 distinct to the AFR group. Additionally, gene enrichment analyses show unique enriched pathways for each population, highlighting the potential influence of genetic ancestry on cardiovascular trait mechanisms and manifestation. Collectively, our results underscore the importance of population-specific approaches in studying the genetic underpinnings of cardiovascular health and further indicate potential avenues for personalised medicine and targeted interventions. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement The funding for this project was provided by H3ABioNet, supported by the National Institutes of Health Common Fund under grant number U24HG006941. The content of this publication is solely the authors' responsibility and does not necessarily represent the official views of the National Institutes of Health. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The study was reviewed by the UK Biobank Project and was exempt from ethical oversight by local legislation. Information on ethics approval by the UK Biobank can be found here: https://www.ukbiobank.ac.uk/learn-more-about-uk-biobank/about-us/ethics#:\\ :text=UK%20Biobank%20research%20ethics%20approval%20UK%20Biobank%20has,%28MREC%29%20as%20a%20Research%20Tissue%20Bank%20%28RTB%29%20approval. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes The datasets that support the results presented in this manuscript are available from: the UK Biobank; \\textlesshttps://www.ukbiobank.ac.uk\\textgreater, dbSNP; \\textlesshttps://www.ncbi.nlm.nih.gov/snp\\textgreater, and the GWAS Catalog; \\textlesshttps://www.ebi.ac.uk/gwas\\textgreater.","author":[{"propositions":[],"lastnames":["Sinkala"],"firstnames":["Musalula"],"suffixes":[]},{"propositions":[],"lastnames":["Elsheikh"],"firstnames":["Samar"],"suffixes":[]},{"propositions":[],"lastnames":["Mbiyavanga"],"firstnames":["Mamana"],"suffixes":[]},{"propositions":[],"lastnames":["Cullinan"],"firstnames":["Joshua"],"suffixes":[]},{"propositions":[],"lastnames":["Mulder"],"firstnames":["Nicola"],"suffixes":[]}],"doi":"10.1101/2022.02.27.22268990","file":":C$\\$:/Users/01462563/AppData/Local/Mendeley Ltd./Mendeley Desktop/Downloaded/Sinkala et al. - 2024 - Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular.pdf:pdf","journal":"medRxiv","keywords":"African Population Genetics,Cardiovascular Genetics,Comparative Genetics,European Population Genetics,Genome-Wide Association Studies,Multi-Trait Analyses,OA,Precision Medicine,SNP Discovery,fund_not_ack,original","mendeley-tags":"OA,fund_not_ack,original","month":"jan","pages":"2022.02.27.22268990","publisher":"Cold Spring Harbor Laboratory Press","title":"Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular traits in Africans and Europeans","url":"https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2 https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2.abstract","year":"2024","bibtex":"@article{Sinkala2024,\r\nabstract = {In exploring the trans-ancestral genetic nuances of cardiovascular traits, we conducted a multi-trait genome-wide association study focusing on African (AFR) and European (EUR) populations in the UK Biobank. Here, we identify 50 genomic risk loci in the AFR population, among which 43 are novel discoveries associated with four cardiovascular traits. Similarly, we identify 829 loci in the EUR population, with 47 being novel. Also, at these loci, we identify 52 SNPs (45 novel) in the AFR population and 1,856 SNPs (957 novel) in the EUR population, among which 83 are shared, highlighting both the shared and rich diversity of the genetic underpinnings of cardiovascular disease across populations. Furthermore, functional mapping of these SNPs reveals distinct distribution patterns, with the EUR population showing a higher proportion in intronic and untranslated regions. Further, our study unravels population-specific genetic associations, identifying 3,011 genes exclusive to the EUR group and 36 distinct to the AFR group. Additionally, gene enrichment analyses show unique enriched pathways for each population, highlighting the potential influence of genetic ancestry on cardiovascular trait mechanisms and manifestation. Collectively, our results underscore the importance of population-specific approaches in studying the genetic underpinnings of cardiovascular health and further indicate potential avenues for personalised medicine and targeted interventions. {\\#}{\\#}{\\#} Competing Interest Statement The authors have declared no competing interest. {\\#}{\\#}{\\#} Funding Statement The funding for this project was provided by H3ABioNet, supported by the National Institutes of Health Common Fund under grant number U24HG006941. The content of this publication is solely the authors' responsibility and does not necessarily represent the official views of the National Institutes of Health. {\\#}{\\#}{\\#} Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The study was reviewed by the UK Biobank Project and was exempt from ethical oversight by local legislation. Information on ethics approval by the UK Biobank can be found here: https://www.ukbiobank.ac.uk/learn-more-about-uk-biobank/about-us/ethics{\\#}:{\\~{}}:text=UK{\\%}20Biobank{\\%}20research{\\%}20ethics{\\%}20approval{\\%}20UK{\\%}20Biobank{\\%}20has,{\\%}28MREC{\\%}29{\\%}20as{\\%}20a{\\%}20Research{\\%}20Tissue{\\%}20Bank{\\%}20{\\%}28RTB{\\%}29{\\%}20approval. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes The datasets that support the results presented in this manuscript are available from: the UK Biobank; {\\textless}https://www.ukbiobank.ac.uk{\\textgreater}, dbSNP; {\\textless}https://www.ncbi.nlm.nih.gov/snp{\\textgreater}, and the GWAS Catalog; {\\textless}https://www.ebi.ac.uk/gwas{\\textgreater}.},\r\nauthor = {Sinkala, Musalula and Elsheikh, Samar and Mbiyavanga, Mamana and Cullinan, Joshua and Mulder, Nicola},\r\ndoi = {10.1101/2022.02.27.22268990},\r\nfile = {:C$\\backslash$:/Users/01462563/AppData/Local/Mendeley Ltd./Mendeley Desktop/Downloaded/Sinkala et al. - 2024 - Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular.pdf:pdf},\r\njournal = {medRxiv},\r\nkeywords = {African Population Genetics,Cardiovascular Genetics,Comparative Genetics,European Population Genetics,Genome-Wide Association Studies,Multi-Trait Analyses,OA,Precision Medicine,SNP Discovery,fund{\\_}not{\\_}ack,original},\r\nmendeley-tags = {OA,fund{\\_}not{\\_}ack,original},\r\nmonth = {jan},\r\npages = {2022.02.27.22268990},\r\npublisher = {Cold Spring Harbor Laboratory Press},\r\ntitle = {{Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular traits in Africans and Europeans}},\r\nurl = {https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2 https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2.abstract},\r\nyear = {2024}\r\n}\r\n","author_short":["Sinkala, M.","Elsheikh, S.","Mbiyavanga, M.","Cullinan, J.","Mulder, N."],"key":"Sinkala2024","id":"Sinkala2024","bibbaseid":"sinkala-elsheikh-mbiyavanga-cullinan-mulder-multitraitgenomewideanalysisintheukbiobankrevealsnovelanddistinctvariantsinfluencingcardiovasculartraitsinafricansandeuropeans-2024","role":"author","urls":{"Paper":"https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2 https://www.medrxiv.org/content/10.1101/2022.02.27.22268990v2.abstract"},"keyword":["African Population Genetics","Cardiovascular Genetics","Comparative Genetics","European Population Genetics","Genome-Wide Association Studies","Multi-Trait Analyses","OA","Precision Medicine","SNP Discovery","fund_not_ack","original"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://drive.google.com/uc?export=download&id=1-JLqZ7RwZ3VC2d6ErLGHAtOeMRS_7GCz","dataSources":["Krmt6gt9ktB2s6ARh"],"keywords":["african population genetics","cardiovascular genetics","comparative genetics","european population genetics","genome-wide association studies","multi-trait analyses","oa","precision medicine","snp discovery","fund_not_ack","original"],"search_terms":["multitrait","genome","wide","analysis","biobank","reveals","novel","distinct","variants","influencing","cardiovascular","traits","africans","europeans","sinkala","elsheikh","mbiyavanga","cullinan","mulder"],"title":"Multitrait genome-wide analysis in the UK biobank reveals novel and distinct variants influencing cardiovascular traits in Africans and Europeans","year":2024}