Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits
<p dir="ltr">Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole geno...
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2021
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| _version_ | 1864513556465057792 |
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| author | Gaurav Thareja (459188) |
| author2 | The Qatar Genome Program Research (QGPR) Consortium (14157276) Yasser Al-Sarraj (11721425) Aziz Belkadi (779313) Maryam Almotawa (14157279) Karsten Suhre (67967) Omar M. E. Albagha (11704871) |
| author2_role | author author author author author author |
| author_facet | Gaurav Thareja (459188) The Qatar Genome Program Research (QGPR) Consortium (14157276) Yasser Al-Sarraj (11721425) Aziz Belkadi (779313) Maryam Almotawa (14157279) Karsten Suhre (67967) Omar M. E. Albagha (11704871) |
| author_role | author |
| dc.creator.none.fl_str_mv | Gaurav Thareja (459188) The Qatar Genome Program Research (QGPR) Consortium (14157276) Yasser Al-Sarraj (11721425) Aziz Belkadi (779313) Maryam Almotawa (14157279) Karsten Suhre (67967) Omar M. E. Albagha (11704871) |
| dc.date.none.fl_str_mv | 2021-02-23T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1038/s41467-021-21381-3 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Whole_genome_sequencing_in_the_Middle_Eastern_Qatari_population_identifies_genetic_associations_with_45_clinically_relevant_traits/21601788 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences General Physics and Astronomy General Biochemistry, Genetics and Molecular Biology General Chemistry |
| dc.title.none.fl_str_mv | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole genome sequencing approach in a discovery set of 6218 individuals and replication in 7768 subjects. Trait heritability is more similar between Qatari and European populations (r = 0.81) than with Africans (r = 0.44). We identify 281 distinct variant-trait-associations at genome wide significance that replicate known associations. Allele frequencies for replicated loci show higher correlations with European (r = 0.94) than with African (r = 0.85) or Japanese (r = 0.80) populations. We find differences in linkage disequilibrium patterns and in effect sizes of the replicated loci compared to previous reports. We also report 17 novel and Qatari-predominate signals providing insights into the biological pathways regulating these traits. We observe that European-derived polygenic scores (PGS) have reduced predictive performance in the Qatari population which could have implications for the translation of PGS between populations and their future application in precision medicine.</p><h2>Other Information</h2><p dir="ltr">Published in: Nature Communications<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="http://dx.doi.org/10.1038/s41467-021-21381-3" target="_blank">http://dx.doi.org/10.1038/s41467-021-21381-3</a></p><p dir="ltr">Additional institutions affiliated with: The Qatar Genome Program Research (QGPR) Consortium</p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_380d66974a59178c1a36691dca19819e |
| identifier_str_mv | 10.1038/s41467-021-21381-3 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/21601788 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traitsGaurav Thareja (459188)The Qatar Genome Program Research (QGPR) Consortium (14157276)Yasser Al-Sarraj (11721425)Aziz Belkadi (779313)Maryam Almotawa (14157279)Karsten Suhre (67967)Omar M. E. Albagha (11704871)Biological sciencesBiochemistry and cell biologyGeneticsBiomedical and clinical sciencesClinical sciencesGeneral Physics and AstronomyGeneral Biochemistry, Genetics and Molecular BiologyGeneral Chemistry<p dir="ltr">Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole genome sequencing approach in a discovery set of 6218 individuals and replication in 7768 subjects. Trait heritability is more similar between Qatari and European populations (r = 0.81) than with Africans (r = 0.44). We identify 281 distinct variant-trait-associations at genome wide significance that replicate known associations. Allele frequencies for replicated loci show higher correlations with European (r = 0.94) than with African (r = 0.85) or Japanese (r = 0.80) populations. We find differences in linkage disequilibrium patterns and in effect sizes of the replicated loci compared to previous reports. We also report 17 novel and Qatari-predominate signals providing insights into the biological pathways regulating these traits. We observe that European-derived polygenic scores (PGS) have reduced predictive performance in the Qatari population which could have implications for the translation of PGS between populations and their future application in precision medicine.</p><h2>Other Information</h2><p dir="ltr">Published in: Nature Communications<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="http://dx.doi.org/10.1038/s41467-021-21381-3" target="_blank">http://dx.doi.org/10.1038/s41467-021-21381-3</a></p><p dir="ltr">Additional institutions affiliated with: The Qatar Genome Program Research (QGPR) Consortium</p>2021-02-23T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1038/s41467-021-21381-3https://figshare.com/articles/journal_contribution/Whole_genome_sequencing_in_the_Middle_Eastern_Qatari_population_identifies_genetic_associations_with_45_clinically_relevant_traits/21601788CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/216017882021-02-23T09:00:00Z |
| spellingShingle | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits Gaurav Thareja (459188) Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences General Physics and Astronomy General Biochemistry, Genetics and Molecular Biology General Chemistry |
| status_str | publishedVersion |
| title | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| title_full | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| title_fullStr | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| title_full_unstemmed | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| title_short | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| title_sort | Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits |
| topic | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences General Physics and Astronomy General Biochemistry, Genetics and Molecular Biology General Chemistry |