The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study
<p dir="ltr">Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. In this study, we estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar using whole-genome sequencing (WGS) of 14,364 subjects from the po...
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| مؤلفون آخرون: | , , , , , , |
| منشور في: |
2022
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| _version_ | 1864513512422768640 |
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| author | Asma A. Elashi (17821415) |
| author2 | Salman M. Toor (8854751) Ilhame Diboun (3522413) Yasser Al-Sarraj (11721425) Shahrad Taheri (57360) Karsten Suhre (67967) Abdul Badi Abou-Samra (9417977) Omar M. E. Albagha (11704871) |
| author2_role | author author author author author author author |
| author_facet | Asma A. Elashi (17821415) Salman M. Toor (8854751) Ilhame Diboun (3522413) Yasser Al-Sarraj (11721425) Shahrad Taheri (57360) Karsten Suhre (67967) Abdul Badi Abou-Samra (9417977) Omar M. E. Albagha (11704871) |
| author_role | author |
| dc.creator.none.fl_str_mv | Asma A. Elashi (17821415) Salman M. Toor (8854751) Ilhame Diboun (3522413) Yasser Al-Sarraj (11721425) Shahrad Taheri (57360) Karsten Suhre (67967) Abdul Badi Abou-Samra (9417977) Omar M. E. Albagha (11704871) |
| dc.date.none.fl_str_mv | 2022-12-21T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/ijms24010130 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/The_Genetic_Spectrum_of_Maturity-Onset_Diabetes_of_the_Young_MODY_in_Qatar_a_Population-Based_Study/26021410 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences maturity-onset diabetes of the young MODY diabetes HNF1A HNF4A GCK |
| dc.title.none.fl_str_mv | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. In this study, we estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar using whole-genome sequencing (WGS) of 14,364 subjects from the population-based Qatar biobank (QBB) cohort. We focused our investigations on 14 previously identified genes ascribed to the cause of MODY and two potentially novel MODY-causing genes, RFX6 and NKX6-1. Genetic variations within the 16 MODY-related genes were assessed for their pathogenicity to identify disease-causing mutations. Analysis of QBB phenotype data revealed 72 subjects (0.5%) with type 1 diabetes, 2915 subjects (20.3%) with type 2 diabetes and 11,377 (79.2%) without diabetes. We identified 22 mutations in 67 subjects that were previously reported in the Human Genetic Mutation Database (HGMD) as disease-causing (DM) or likely disease causing (DM?) for MODY. We also identified 28 potentially novel MODY-causing mutations, predicted to be among the top 1% most deleterious mutations in the human genome, which showed complete (100%) disease penetrance in 34 subjects. Overall, we estimated that MODY accounts for around 2.2–3.4% of diabetes patients in Qatar. This is the first population-based study to determine the genetic spectrum and estimate the prevalence of MODY in the Middle East. Further research to characterize the newly identified mutations is warranted.</p><h2>Other Information</h2><p dir="ltr">Published in: International Journal of Molecular Sciences<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/ijms24010130" target="_blank">https://dx.doi.org/10.3390/ijms24010130</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_b72d894edf6739a4f534b56db25866d8 |
| identifier_str_mv | 10.3390/ijms24010130 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26021410 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based StudyAsma A. Elashi (17821415)Salman M. Toor (8854751)Ilhame Diboun (3522413)Yasser Al-Sarraj (11721425)Shahrad Taheri (57360)Karsten Suhre (67967)Abdul Badi Abou-Samra (9417977)Omar M. E. Albagha (11704871)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesmaturity-onset diabetes of the youngMODYdiabetesHNF1AHNF4AGCK<p dir="ltr">Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. In this study, we estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar using whole-genome sequencing (WGS) of 14,364 subjects from the population-based Qatar biobank (QBB) cohort. We focused our investigations on 14 previously identified genes ascribed to the cause of MODY and two potentially novel MODY-causing genes, RFX6 and NKX6-1. Genetic variations within the 16 MODY-related genes were assessed for their pathogenicity to identify disease-causing mutations. Analysis of QBB phenotype data revealed 72 subjects (0.5%) with type 1 diabetes, 2915 subjects (20.3%) with type 2 diabetes and 11,377 (79.2%) without diabetes. We identified 22 mutations in 67 subjects that were previously reported in the Human Genetic Mutation Database (HGMD) as disease-causing (DM) or likely disease causing (DM?) for MODY. We also identified 28 potentially novel MODY-causing mutations, predicted to be among the top 1% most deleterious mutations in the human genome, which showed complete (100%) disease penetrance in 34 subjects. Overall, we estimated that MODY accounts for around 2.2–3.4% of diabetes patients in Qatar. This is the first population-based study to determine the genetic spectrum and estimate the prevalence of MODY in the Middle East. Further research to characterize the newly identified mutations is warranted.</p><h2>Other Information</h2><p dir="ltr">Published in: International Journal of Molecular Sciences<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/ijms24010130" target="_blank">https://dx.doi.org/10.3390/ijms24010130</a></p>2022-12-21T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/ijms24010130https://figshare.com/articles/journal_contribution/The_Genetic_Spectrum_of_Maturity-Onset_Diabetes_of_the_Young_MODY_in_Qatar_a_Population-Based_Study/26021410CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/260214102022-12-21T03:00:00Z |
| spellingShingle | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study Asma A. Elashi (17821415) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences maturity-onset diabetes of the young MODY diabetes HNF1A HNF4A GCK |
| status_str | publishedVersion |
| title | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| title_full | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| title_fullStr | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| title_full_unstemmed | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| title_short | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| title_sort | The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences maturity-onset diabetes of the young MODY diabetes HNF1A HNF4A GCK |