Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank
<h3>Purpose</h3><p dir="ltr">To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessi...
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2024
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| _version_ | 1864513540447010816 |
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| author | Geethanjali Devadoss Gandhi (14780425) |
| author2 | Elbay Aliyev (14056972) Najeeb Syed (12561967) Fazulur Rehaman Vempalli (14778577) Chadi Saad (5369351) Hamdi Mbarek (134997) Omayma Al-Saei (18288931) Aljazi Al-Maraghi (14056975) Mona Abdi (10196665) Navaneethakrishnan Krishnamoorthy (391608) Ramin Badii (491543) Said I. Ismail (11721428) Wadha Al-Muftah (14152551) Radja Badji (14152548) Dima Darwish (14152545) Tasnim Fadl (14152533) Heba Yasin (14152542) Maryem Ennaifar (14778556) Rania Abdellatif (18589450) Fatima Alkuwari (14778562) Muhammad Alvi (4831311) Yasser Al-Sarraj (11721425) Asmaa Althani (499903) Eleni Fethnou (14778568) Fatima Qafoud (14778571) Eiman Alkhayat (14778574) Nahla Afifi (193245) Sara Tomei (3441323) Wei Liu (20030) Stephan Lorenz (466378) Hakeem Almabrazi (6561371) Ramzi Temanni (671528) Tariq Abu Saqri (14778580) Mohammedhusen Khatib (14778583) Mehshad Hamza (14778586) Tariq Abu Zaid (14778589) Ahmed El Khouly (14778592) Tushar Pathare (14778595) Shafeeq Poolat (14778598) Rashid Al-Ali (846229) Omar Albagha (8977856) Souhaila Al-Khodor (247417) Mashael Alshafai (14778607) Lotfi Chouchane (61840) Xavier Estivill (23803) Khalid A. Fakhro (3158862) Younes Mokrab (6367) Jithesh V. Puthen (14778610) Karsten Suhre (67967) Zohreh Tatari (14778613) Ammira A. Akil (19326085) Tawfeg Ben-Omran (6663634) |
| author2_role | author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| author_facet | Geethanjali Devadoss Gandhi (14780425) Elbay Aliyev (14056972) Najeeb Syed (12561967) Fazulur Rehaman Vempalli (14778577) Chadi Saad (5369351) Hamdi Mbarek (134997) Omayma Al-Saei (18288931) Aljazi Al-Maraghi (14056975) Mona Abdi (10196665) Navaneethakrishnan Krishnamoorthy (391608) Ramin Badii (491543) Said I. Ismail (11721428) Wadha Al-Muftah (14152551) Radja Badji (14152548) Dima Darwish (14152545) Tasnim Fadl (14152533) Heba Yasin (14152542) Maryem Ennaifar (14778556) Rania Abdellatif (18589450) Fatima Alkuwari (14778562) Muhammad Alvi (4831311) Yasser Al-Sarraj (11721425) Asmaa Althani (499903) Eleni Fethnou (14778568) Fatima Qafoud (14778571) Eiman Alkhayat (14778574) Nahla Afifi (193245) Sara Tomei (3441323) Wei Liu (20030) Stephan Lorenz (466378) Hakeem Almabrazi (6561371) Ramzi Temanni (671528) Tariq Abu Saqri (14778580) Mohammedhusen Khatib (14778583) Mehshad Hamza (14778586) Tariq Abu Zaid (14778589) Ahmed El Khouly (14778592) Tushar Pathare (14778595) Shafeeq Poolat (14778598) Rashid Al-Ali (846229) Omar Albagha (8977856) Souhaila Al-Khodor (247417) Mashael Alshafai (14778607) Lotfi Chouchane (61840) Xavier Estivill (23803) Khalid A. Fakhro (3158862) Younes Mokrab (6367) Jithesh V. Puthen (14778610) Karsten Suhre (67967) Zohreh Tatari (14778613) Ammira A. Akil (19326085) Tawfeg Ben-Omran (6663634) |
| author_role | author |
| dc.creator.none.fl_str_mv | Geethanjali Devadoss Gandhi (14780425) Elbay Aliyev (14056972) Najeeb Syed (12561967) Fazulur Rehaman Vempalli (14778577) Chadi Saad (5369351) Hamdi Mbarek (134997) Omayma Al-Saei (18288931) Aljazi Al-Maraghi (14056975) Mona Abdi (10196665) Navaneethakrishnan Krishnamoorthy (391608) Ramin Badii (491543) Said I. Ismail (11721428) Wadha Al-Muftah (14152551) Radja Badji (14152548) Dima Darwish (14152545) Tasnim Fadl (14152533) Heba Yasin (14152542) Maryem Ennaifar (14778556) Rania Abdellatif (18589450) Fatima Alkuwari (14778562) Muhammad Alvi (4831311) Yasser Al-Sarraj (11721425) Asmaa Althani (499903) Eleni Fethnou (14778568) Fatima Qafoud (14778571) Eiman Alkhayat (14778574) Nahla Afifi (193245) Sara Tomei (3441323) Wei Liu (20030) Stephan Lorenz (466378) Hakeem Almabrazi (6561371) Ramzi Temanni (671528) Tariq Abu Saqri (14778580) Mohammedhusen Khatib (14778583) Mehshad Hamza (14778586) Tariq Abu Zaid (14778589) Ahmed El Khouly (14778592) Tushar Pathare (14778595) Shafeeq Poolat (14778598) Rashid Al-Ali (846229) Omar Albagha (8977856) Souhaila Al-Khodor (247417) Mashael Alshafai (14778607) Lotfi Chouchane (61840) Xavier Estivill (23803) Khalid A. Fakhro (3158862) Younes Mokrab (6367) Jithesh V. Puthen (14778610) Karsten Suhre (67967) Zohreh Tatari (14778613) Ammira A. Akil (19326085) Tawfeg Ben-Omran (6663634) |
| dc.date.none.fl_str_mv | 2024-10-19T18:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1016/j.gim.2024.101268 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Mapping_the_genetic_landscape_of_treatable_inherited_metabolic_disorders_in_a_large_Middle_Eastern_biobank/30024373 |
| 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 Health sciences Public health Carrier frequency Inbreeding coefficient Inherited metabolic disorders Middle Eastern population VUS reclassification |
| dc.title.none.fl_str_mv | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Purpose</h3><p dir="ltr">To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessive, leading to a potentially higher incidence in regions with high consanguinity. </p><h3>Methodology</h3><p dir="ltr">The study utilized genome sequencing data from 14,060 adult Qatari participants who were recruited by the Qatar Biobank and sequenced by the Qatar Genome Program. The genome sequencing data were analyzed for 125 nuclear genes known to be associated with 115 treatable IMDs. </p><h3>Results</h3><p dir="ltr">Our study identified 253 pathogenic/likely pathogenic single-nucleotide variations associated with 69 treatable IMDs, including 211 known and 42 novel predicted loss-of-function variants. We estimated that approximately 1 in 13 unrelated individuals (8%) carry a heterozygous pathogenic variant for at least 1 of 46 treatable IMDs. Notably, phenylketonuria/hyperphenylalaninemia and homocystinuria had among the highest carrier frequencies (1 in 68 and 1 in 85, respectively). </p><h3>Conclusion</h3><p dir="ltr">Population-based studies of treatable IMDs, particularly in globally under-studied populations, can identify high-frequency alleles segregating in the community and inform public health policies, including carrier and newborn screening.</p><h2>Other Information</h2><p dir="ltr">Published in: Genetics in Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.gim.2024.101268" target="_blank">https://dx.doi.org/10.1016/j.gim.2024.101268</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_4c4f00843dc9ec740bbc4602104bfc39 |
| identifier_str_mv | 10.1016/j.gim.2024.101268 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/30024373 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobankGeethanjali Devadoss Gandhi (14780425)Elbay Aliyev (14056972)Najeeb Syed (12561967)Fazulur Rehaman Vempalli (14778577)Chadi Saad (5369351)Hamdi Mbarek (134997)Omayma Al-Saei (18288931)Aljazi Al-Maraghi (14056975)Mona Abdi (10196665)Navaneethakrishnan Krishnamoorthy (391608)Ramin Badii (491543)Said I. Ismail (11721428)Wadha Al-Muftah (14152551)Radja Badji (14152548)Dima Darwish (14152545)Tasnim Fadl (14152533)Heba Yasin (14152542)Maryem Ennaifar (14778556)Rania Abdellatif (18589450)Fatima Alkuwari (14778562)Muhammad Alvi (4831311)Yasser Al-Sarraj (11721425)Asmaa Althani (499903)Eleni Fethnou (14778568)Fatima Qafoud (14778571)Eiman Alkhayat (14778574)Nahla Afifi (193245)Sara Tomei (3441323)Wei Liu (20030)Stephan Lorenz (466378)Hakeem Almabrazi (6561371)Ramzi Temanni (671528)Tariq Abu Saqri (14778580)Mohammedhusen Khatib (14778583)Mehshad Hamza (14778586)Tariq Abu Zaid (14778589)Ahmed El Khouly (14778592)Tushar Pathare (14778595)Shafeeq Poolat (14778598)Rashid Al-Ali (846229)Omar Albagha (8977856)Souhaila Al-Khodor (247417)Mashael Alshafai (14778607)Lotfi Chouchane (61840)Xavier Estivill (23803)Khalid A. Fakhro (3158862)Younes Mokrab (6367)Jithesh V. Puthen (14778610)Karsten Suhre (67967)Zohreh Tatari (14778613)Ammira A. Akil (19326085)Tawfeg Ben-Omran (6663634)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesHealth sciencesPublic healthCarrier frequencyInbreeding coefficientInherited metabolic disordersMiddle Eastern populationVUS reclassification<h3>Purpose</h3><p dir="ltr">To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessive, leading to a potentially higher incidence in regions with high consanguinity. </p><h3>Methodology</h3><p dir="ltr">The study utilized genome sequencing data from 14,060 adult Qatari participants who were recruited by the Qatar Biobank and sequenced by the Qatar Genome Program. The genome sequencing data were analyzed for 125 nuclear genes known to be associated with 115 treatable IMDs. </p><h3>Results</h3><p dir="ltr">Our study identified 253 pathogenic/likely pathogenic single-nucleotide variations associated with 69 treatable IMDs, including 211 known and 42 novel predicted loss-of-function variants. We estimated that approximately 1 in 13 unrelated individuals (8%) carry a heterozygous pathogenic variant for at least 1 of 46 treatable IMDs. Notably, phenylketonuria/hyperphenylalaninemia and homocystinuria had among the highest carrier frequencies (1 in 68 and 1 in 85, respectively). </p><h3>Conclusion</h3><p dir="ltr">Population-based studies of treatable IMDs, particularly in globally under-studied populations, can identify high-frequency alleles segregating in the community and inform public health policies, including carrier and newborn screening.</p><h2>Other Information</h2><p dir="ltr">Published in: Genetics in Medicine<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.gim.2024.101268" target="_blank">https://dx.doi.org/10.1016/j.gim.2024.101268</a></p>2024-10-19T18:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1016/j.gim.2024.101268https://figshare.com/articles/journal_contribution/Mapping_the_genetic_landscape_of_treatable_inherited_metabolic_disorders_in_a_large_Middle_Eastern_biobank/30024373CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/300243732024-10-19T18:00:00Z |
| spellingShingle | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank Geethanjali Devadoss Gandhi (14780425) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Health sciences Public health Carrier frequency Inbreeding coefficient Inherited metabolic disorders Middle Eastern population VUS reclassification |
| status_str | publishedVersion |
| title | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| title_full | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| title_fullStr | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| title_full_unstemmed | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| title_short | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| title_sort | Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Health sciences Public health Carrier frequency Inbreeding coefficient Inherited metabolic disorders Middle Eastern population VUS reclassification |