{"id":"https://openalex.org/W4403381663","doi":"https://doi.org/10.1007/s12041-024-01483-9","title":"Association study of common KLF1 variants with Hb F and Hb A2 levels in \u03b2-thalassaemia carriers of Portuguese ancestry","display_name":"Association study of common KLF1 variants with Hb F and Hb A2 levels in \u03b2-thalassaemia carriers of Portuguese ancestry","publication_year":2024,"publication_date":"2024-10-14","ids":{"openalex":"https://openalex.org/W4403381663","doi":"https://doi.org/10.1007/s12041-024-01483-9","pmid":"https://pubmed.ncbi.nlm.nih.gov/39445566"},"language":"en","primary_location":{"id":"doi:10.1007/s12041-024-01483-9","doi":"https://doi.org/10.1007/s12041-024-01483-9","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s12041-024-01483-9","pdf_url":null,"source":{"id":"https://openalex.org/S115516119","display_name":"Journal of Genetics","issn_l":"0022-1333","issn":["0022-1333","0973-7731"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018899257","display_name":"Lic\u00ednio Manco","orcid":"https://orcid.org/0000-0002-2636-0288","observed_orcids":["https://orcid.org/0000-0002-2636-0288"]},"institutions":[{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":true,"raw_author_name":"Lic\u00ednio Manco","raw_affiliation_strings":["Department of Life Sciences, University of Coimbra, Coimbra, Portugal","Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal"],"raw_orcid":"https://orcid.org/0000-0002-2636-0288","affiliations":[{"raw_affiliation_string":"Department of Life Sciences, University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]},{"raw_affiliation_string":"Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066573569","display_name":"Celeste Bento","orcid":"https://orcid.org/0000-0003-1080-411X","observed_orcids":["https://orcid.org/0000-0003-1080-411X","https://orcid.org/0000-0001-6510-1556"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]},{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Celeste Bento","raw_affiliation_strings":["Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]},{"raw_affiliation_string":"Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110392584","display_name":"Lu\u00eds Relvas","orcid":"https://orcid.org/0000-0002-4586-3446","observed_orcids":["https://orcid.org/0000-0002-4586-3446"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Lu\u00eds Relvas","raw_affiliation_strings":["Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010980999","display_name":"Tabita Magalh\u00e3es Maia","orcid":"https://orcid.org/0009-0005-5446-7698","observed_orcids":["https://orcid.org/0009-0005-5446-7698"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Tabita Maia","raw_affiliation_strings":["Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5011821532","display_name":"Let\u00edcia Ribeiro","orcid":"https://orcid.org/0000-0002-7469-7061","observed_orcids":["https://orcid.org/0000-0002-7469-7061"]},"institutions":[{"id":"https://openalex.org/I2802025818","display_name":"Unidade Local de Sa\u00fade de Coimbra","ror":"https://ror.org/04032fz76","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I2802025818"]},{"id":"https://openalex.org/I76903346","display_name":"University of Coimbra","ror":"https://ror.org/04z8k9a98","country_code":"PT","type":"education","lineage":["https://openalex.org/I76903346"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"M. Let\u00edcia Ribeiro","raw_affiliation_strings":["Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology, University Hospital Coimbra (CHUC), Coimbra, Portugal","institution_ids":["https://openalex.org/I2802025818"]},{"raw_affiliation_string":"Research Centre for Anthropology and Health (CIAS), University of Coimbra, Coimbra, Portugal","institution_ids":["https://openalex.org/I76903346"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5018899257"],"corresponding_institution_ids":["https://openalex.org/I76903346"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"103","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13426","display_name":"Kruppel-like factors research","score":0.0032999999821186066,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/klf1","display_name":"KLF1","score":0.9660000205039978},{"id":"https://openalex.org/keywords/fetal-hemoglobin","display_name":"fetal hemoglobin","score":0.7129999995231628},{"id":"https://openalex.org/keywords/hba2","display_name":"HbA2","score":0.7820000052452087},{"id":"https://openalex.org/keywords/beta-thalassemia-carriers","display_name":"beta-thalassemia carriers","score":0.8500000238418579},{"id":"https://openalex.org/keywords/portuguese-ancestry","display_name":"Portuguese ancestry","score":0.6669999957084656},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8100000023841858},{"id":"https://openalex.org/keywords/promoter-polymorphism","display_name":"promoter polymorphism","score":0.7789999842643738},{"id":"https://openalex.org/keywords/erythroid-transcription-factor","display_name":"erythroid transcription factor","score":0.6990000009536743},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.5090000033378601},{"id":"https://openalex.org/keywords/minor-allele-frequency","display_name":"minor allele frequency","score":0.7200000286102295},{"id":"https://openalex.org/keywords/hemoglobin-variants","display_name":"hemoglobin variants","score":0.3449999988079071}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8542454242706299},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6130460500717163},{"id":"https://openalex.org/C35219183","wikidata":"https://www.wikidata.org/wiki/Q5146","display_name":"Portuguese","level":2,"score":0.5633760690689087},{"id":"https://openalex.org/C2909410647","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta-thalassaemia","level":3,"score":0.426949143409729},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.33873796463012695},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.10241186618804932},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006443","descriptor_name":"Hemoglobin A2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011174","descriptor_name":"Portugal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051741","descriptor_name":"Kruppel-Like Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s12041-024-01483-9","doi":"https://doi.org/10.1007/s12041-024-01483-9","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s12041-024-01483-9","pdf_url":null,"source":{"id":"https://openalex.org/S115516119","display_name":"Journal of Genetics","issn_l":"0022-1333","issn":["0022-1333","0973-7731"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Genetics","raw_type":"journal-article"},{"id":"pmid:39445566","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39445566","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1985231093","display_name":"Centro de Investiga\u00e7\u00e3o em Antropologia e Sa\u00fade","funder_award_id":"UIDB/00283/2020","funder_id":"https://openalex.org/F4320334779","funder_display_name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia"}],"funders":[{"id":"https://openalex.org/F4320334779","display_name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","ror":"https://ror.org/00snfqn58"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W54549501","https://openalex.org/W278652486","https://openalex.org/W1542732395","https://openalex.org/W1742658146","https://openalex.org/W1974088603","https://openalex.org/W1984697385","https://openalex.org/W1993398475","https://openalex.org/W2011352206","https://openalex.org/W2032180308","https://openalex.org/W2048531100","https://openalex.org/W2068311630","https://openalex.org/W2089968600","https://openalex.org/W2099085143","https://openalex.org/W2139826725","https://openalex.org/W2155119455","https://openalex.org/W2336611080","https://openalex.org/W2778966550","https://openalex.org/W2791105969","https://openalex.org/W2902200848","https://openalex.org/W2946210258","https://openalex.org/W2995844486","https://openalex.org/W3119648185","https://openalex.org/W3175611441","https://openalex.org/W4302354217"],"related_works":["https://openalex.org/W2889578918","https://openalex.org/W2595340471","https://openalex.org/W2602090143","https://openalex.org/W2053712094","https://openalex.org/W4361297891","https://openalex.org/W2918161114","https://openalex.org/W2765406718","https://openalex.org/W1974088603","https://openalex.org/W1979214700","https://openalex.org/W2778966550"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-10-14T00:00:00"}