{"id":"https://openalex.org/W2336636993","doi":"https://doi.org/10.1177/1535370216642047","title":"Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease","display_name":"Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease","publication_year":2016,"publication_date":"2016-03-27","ids":{"openalex":"https://openalex.org/W2336636993","doi":"https://doi.org/10.1177/1535370216642047","mag":"2336636993","pmid":"https://pubmed.ncbi.nlm.nih.gov/27022141"},"language":"en","primary_location":{"id":"doi:10.1177/1535370216642047","doi":"https://doi.org/10.1177/1535370216642047","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1535370216642047","pdf_url":null,"source":{"id":"https://openalex.org/S67514239","display_name":"Experimental Biology and Medicine","issn_l":"0071-3384","issn":["0071-3384","1535-3699","1535-3702"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Biology and Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4950389","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100418723","display_name":"Li Liu","orcid":"https://orcid.org/0000-0001-5830-8671","observed_orcids":["https://orcid.org/0000-0001-5830-8671"]},"institutions":[{"id":"https://openalex.org/I162577319","display_name":"The University of Texas at Dallas","ror":"https://ror.org/049emcs32","country_code":"US","type":"education","lineage":["https://openalex.org/I162577319"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Li Liu","raw_affiliation_strings":["Department of Biological Sciences, University of Texas at Dallas, Dallas, TX 75083, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Texas at Dallas, Dallas, TX 75083, USA","institution_ids":["https://openalex.org/I162577319"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062093316","display_name":"Alexander Pertsemlidis","orcid":"https://orcid.org/0000-0003-1624-9372","observed_orcids":["https://orcid.org/0000-0003-1624-9372"]},"institutions":[{"id":"https://openalex.org/I165951966","display_name":"The University of Texas at San Antonio Health Science Center","ror":"https://ror.org/02f6dcw23","country_code":"US","type":"education","lineage":["https://openalex.org/I165951966","https://openalex.org/I45438204"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexander Pertsemlidis","raw_affiliation_strings":["Departments of Pediatrics and Cellular & Structural Biology, Greehey Children\u2019s Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA","Departments of Pediatrics and Cellular & Structural Biology, Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Cellular & Structural Biology, Greehey Children\u2019s Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA","institution_ids":["https://openalex.org/I165951966"]},{"raw_affiliation_string":"Departments of Pediatrics and Cellular & Structural Biology, Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA","institution_ids":["https://openalex.org/I165951966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109212290","display_name":"Liang-Hao Ding","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Liang-Hao Ding","raw_affiliation_strings":["Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005076919","display_name":"Michael D. Story","orcid":"https://orcid.org/0000-0001-6522-4169","observed_orcids":["https://orcid.org/0000-0001-6522-4169"]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael D Story","raw_affiliation_strings":["Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065128454","display_name":"Martin H. Steinberg","orcid":"https://orcid.org/0000-0001-8800-8020","observed_orcids":["https://orcid.org/0000-0001-8800-8020"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]},{"id":"https://openalex.org/I1286490081","display_name":"Boston Medical Center","ror":"https://ror.org/010b9wj87","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1286490081"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Martin H Steinberg","raw_affiliation_strings":["Center of Excellence in Sickle Cell Disease Boston Medical Center, Pediatrics, Pathology and Laboratory Medicine, Boston University, Boston, MA 02215, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Excellence in Sickle Cell Disease Boston Medical Center, Pediatrics, Pathology and Laboratory Medicine, Boston University, Boston, MA 02215, USA","institution_ids":["https://openalex.org/I111088046","https://openalex.org/I1286490081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003627453","display_name":"Paola Sebastiani","orcid":"https://orcid.org/0000-0001-6419-1545","observed_orcids":["https://orcid.org/0000-0001-6419-1545"]},"institutions":[{"id":"https://openalex.org/I111088046","display_name":"Boston University","ror":"https://ror.org/05qwgg493","country_code":"US","type":"education","lineage":["https://openalex.org/I111088046"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paola Sebastiani","raw_affiliation_strings":["Department of Biostatistics, Boston University School of Public Health, Boston, MA 02215, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, Boston University School of Public Health, Boston, MA 02215, USA","institution_ids":["https://openalex.org/I111088046"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001812366","display_name":"Carolyn C. Hoppe","orcid":"https://orcid.org/0000-0001-9213-0547","observed_orcids":["https://orcid.org/0000-0001-9213-0547"]},"institutions":[{"id":"https://openalex.org/I4210135903","display_name":"UCSF Benioff Children's Hospital","ror":"https://ror.org/03hwe2705","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210135903"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carolyn Hoppe","raw_affiliation_strings":["Department of Hematology/Oncology, UCSF Benioff Children\u2019s Hospital, Oakland, CA 94609, USA","Department of Hematology/Oncology, UCSF Benioff Children's Hospital, Oakland, CA 94609, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hematology/Oncology, UCSF Benioff Children\u2019s Hospital, Oakland, CA 94609, USA","institution_ids":["https://openalex.org/I4210135903"]},{"raw_affiliation_string":"Department of Hematology/Oncology, UCSF Benioff Children's Hospital, Oakland, CA 94609, USA","institution_ids":["https://openalex.org/I4210135903"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090681994","display_name":"Samir K. Ballas","orcid":"https://orcid.org/0000-0002-7566-1466","observed_orcids":["https://orcid.org/0000-0002-7566-1466"]},"institutions":[{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samir K Ballas","raw_affiliation_strings":["Cardeza Foundation for Hematologic Research, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardeza Foundation for Hematologic Research, Department of Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA","institution_ids":["https://openalex.org/I149251103"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046490615","display_name":"Betty S. Pace","orcid":"https://orcid.org/0000-0002-1275-4112","observed_orcids":["https://orcid.org/0000-0002-1275-4112"]},"institutions":[{"id":"https://openalex.org/I25041050","display_name":"Augusta University","ror":"https://ror.org/012mef835","country_code":"US","type":"education","lineage":["https://openalex.org/I25041050"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Betty S Pace","raw_affiliation_strings":["Department of Pediatrics, Augusta University, Augusta, GA 30912, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Augusta University, Augusta, GA 30912, USA","institution_ids":["https://openalex.org/I25041050"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":null,"fwci":1.5839,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.82261087,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"241","issue":"7","first_page":"706","last_page":"718"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/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"}},{"id":"https://openalex.org/T12094","display_name":"Hemoglobin structure and function","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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"}}],"keywords":[{"id":"https://openalex.org/keywords/sickle-cell-disease","display_name":"sickle cell disease","score":1.0},{"id":"https://openalex.org/keywords/fetal-hemoglobin","display_name":"fetal hemoglobin","score":0.984000027179718},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.7919999957084656},{"id":"https://openalex.org/keywords/sparc","display_name":"SPARC","score":0.6840000152587891},{"id":"https://openalex.org/keywords/eftud2","display_name":"EFTUD2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/jazf1","display_name":"JAZF1","score":1.0},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8240000009536743},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.9049999713897705},{"id":"https://openalex.org/keywords/globin-gene-regulation","display_name":"globin gene regulation","score":0.7699999809265137},{"id":"https://openalex.org/keywords/gfi1","display_name":"GFI1","score":0.5440000295639038},{"id":"https://openalex.org/keywords/creb-binding-protein","display_name":"CREB-binding protein","score":0.9139999747276306},{"id":"https://openalex.org/keywords/gamma-globin","display_name":"gamma-globin","score":0.6729999780654907},{"id":"https://openalex.org/keywords/erythroid-cells","display_name":"erythroid cells","score":0.8489999771118164},{"id":"https://openalex.org/keywords/african-americans","display_name":"African Americans","score":0.8809999823570251}],"concepts":[{"id":"https://openalex.org/C2776317666","wikidata":"https://www.wikidata.org/wiki/Q2496436","display_name":"Fetal hemoglobin","level":4,"score":0.8217922449111938},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7187669277191162},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.70383220911026},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6515254974365234},{"id":"https://openalex.org/C39981086","wikidata":"https://www.wikidata.org/wiki/Q3455568","display_name":"Locus control region","level":5,"score":0.644040584564209},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5917656421661377},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5857746601104736},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5167714357376099},{"id":"https://openalex.org/C111936080","wikidata":"https://www.wikidata.org/wiki/Q913367","display_name":"Enhancer","level":4,"score":0.4739149808883667},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4499932825565338},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4457630217075348},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.43953871726989746},{"id":"https://openalex.org/C55060382","wikidata":"https://www.wikidata.org/wiki/Q7675093","display_name":"Tag SNP","level":5,"score":0.41321420669555664},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.31244418025016785},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.25499677658081055},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.11568477749824524},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000755","descriptor_name":"Anemia, Sickle Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","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":"D005260","descriptor_name":"Female","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":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005319","descriptor_name":"Fetal Hemoglobin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","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":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1177/1535370216642047","doi":"https://doi.org/10.1177/1535370216642047","is_oa":false,"landing_page_url":"https://doi.org/10.1177/1535370216642047","pdf_url":null,"source":{"id":"https://openalex.org/S67514239","display_name":"Experimental Biology and Medicine","issn_l":"0071-3384","issn":["0071-3384","1535-3699","1535-3702"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Experimental Biology and Medicine","raw_type":"journal-article"},{"id":"pmid:27022141","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27022141","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":"Experimental biology and medicine (Maywood, N.J.)","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4950389","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4950389","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Exp Biol Med (Maywood)","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4950389","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4950389","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Exp Biol Med (Maywood)","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.6000000238418579,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3070035798","display_name":null,"funder_award_id":"R56 DK083921","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4701717143","display_name":null,"funder_award_id":"R01 HL087681","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G5241948141","display_name":"Genetic Diversity of Sickle Cell Anemia","funder_award_id":"RC2HL101212","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":81,"referenced_works":["https://openalex.org/W27283706","https://openalex.org/W82775131","https://openalex.org/W1525771228","https://openalex.org/W1531648356","https://openalex.org/W1536982521","https://openalex.org/W1881664604","https://openalex.org/W1968165696","https://openalex.org/W1969724251","https://openalex.org/W1972964884","https://openalex.org/W1973273611","https://openalex.org/W1973769499","https://openalex.org/W1976462157","https://openalex.org/W1978215768","https://openalex.org/W1990407013","https://openalex.org/W1991905557","https://openalex.org/W1993530267","https://openalex.org/W1998500203","https://openalex.org/W1999608172","https://openalex.org/W2001199307","https://openalex.org/W2004203135","https://openalex.org/W2008989169","https://openalex.org/W2012020901","https://openalex.org/W2013351824","https://openalex.org/W2013408205","https://openalex.org/W2018746750","https://openalex.org/W2023155433","https://openalex.org/W2023593100","https://openalex.org/W2031100166","https://openalex.org/W2032464906","https://openalex.org/W2033380734","https://openalex.org/W2034096216","https://openalex.org/W2035559498","https://openalex.org/W2036308544","https://openalex.org/W2036380823","https://openalex.org/W2037238966","https://openalex.org/W2044485538","https://openalex.org/W2049197810","https://openalex.org/W2049584544","https://openalex.org/W2049638212","https://openalex.org/W2053196631","https://openalex.org/W2061621081","https://openalex.org/W2064494098","https://openalex.org/W2064960080","https://openalex.org/W2069252959","https://openalex.org/W2070879341","https://openalex.org/W2078547860","https://openalex.org/W2081875871","https://openalex.org/W2082592747","https://openalex.org/W2088928744","https://openalex.org/W2089459884","https://openalex.org/W2091029646","https://openalex.org/W2108638877","https://openalex.org/W2118515070","https://openalex.org/W2119279196","https://openalex.org/W2133952757","https://openalex.org/W2134881764","https://openalex.org/W2137512897","https://openalex.org/W2148413043","https://openalex.org/W2153321463","https://openalex.org/W2153926593","https://openalex.org/W2155119455","https://openalex.org/W2155829072","https://openalex.org/W2157772347","https://openalex.org/W2158071804","https://openalex.org/W2161143576","https://openalex.org/W2161633633","https://openalex.org/W2162530578","https://openalex.org/W2165453201","https://openalex.org/W2169148107","https://openalex.org/W2170482856","https://openalex.org/W2203817162","https://openalex.org/W2233438852","https://openalex.org/W2233975525","https://openalex.org/W2322074970","https://openalex.org/W2334263927","https://openalex.org/W2415456443","https://openalex.org/W2432648528","https://openalex.org/W2522506997","https://openalex.org/W3158286353","https://openalex.org/W3187992181","https://openalex.org/W4252330509"],"related_works":["https://openalex.org/W2319637299","https://openalex.org/W2087652779","https://openalex.org/W4233294463","https://openalex.org/W2187968078","https://openalex.org/W2079824395","https://openalex.org/W2367827590","https://openalex.org/W2899714688","https://openalex.org/W2130169482","https://openalex.org/W2087198772","https://openalex.org/W2129874120"],"abstract_inverted_index":{"Sickle":[0],"cell":[1],"disease":[2],"(SCD)":[3],"is":[4,47,234],"a":[5,15,37,66,72,186,224,228,235,278],"group":[6,92,102,182],"of":[7,21,40,52,94,125,158,188,193,202,211,251,289],"inherited":[8],"blood":[9],"disorders":[10],"that":[11],"have":[12],"in":[13,17,76,115,121,138,162,178,183,195,214,245,267],"common":[14],"mutation":[16,35],"the":[18,22,32,122,126,139,163,179,196,246],"sixth":[19],"codon":[20],"\u03b2-globin":[23],"(HBB)":[24],"gene":[25,128,160],"on":[26],"chromosome":[27],"11.":[28],"However,":[29],"people":[30],"with":[31,80,87,96,104,130,150,260],"same":[33],"genetic":[34,50,84],"display":[36],"wide":[38],"range":[39],"clinical":[41],"phenotypes.":[42],"Fetal":[43],"hemoglobin":[44],"(HbF)":[45],"expression":[46],"an":[48,116,215],"important":[49],"modifier":[51],"SCD":[53,81],"complications":[54],"leading":[55],"to":[56,82,185],"milder":[57],"symptoms":[58],"and":[59,100,143,169,190,274],"improved":[60],"long-term":[61],"survival.":[62],"Therefore,":[63],"we":[64,135],"performed":[65,259],"genome-wide":[67],"association":[68],"study":[69,284],"(GWAS)":[70],"using":[71],"case-control":[73],"experimental":[74],"design":[75],"244":[77],"African":[78],"Americans":[79],"discover":[83],"factors":[85],"associated":[86,129,149],"HbF":[88,131,151,181,198,216,275,290],"expression.":[89,132],"The":[90],"case":[91],"consisted":[93],"subjects":[95,103],"HbF\u22658.6%":[97],"(133":[98],"samples)":[99],"control":[101],"HbF\u2264\u00a33.1%":[105],"(111":[106],"samples).":[107],"Our":[108],"GWAS":[109],"results":[110],"replicated":[111],"SNPs":[112,137,209],"previously":[113],"identified":[114,136,208],"erythroid-specific":[117],"enhancer":[118],"region":[119],"located":[120,213],"second":[123],"intron":[124],"BCL11A":[127],"In":[133,219],"addition,":[134],"SPARC,":[140],"GJC1,":[141],"EFTUD2":[142],"JAZF1":[144],"genes":[145],"as":[146],"novel":[147],"candidates":[148],"levels.":[152],"To":[153],"gain":[154],"insights":[155],"into":[156],"mechanisms":[157],"globin":[159],"regulation":[161],"HBB":[164,204],"locus,":[165],"linkage":[166],"disequilibrium":[167],"(LD)":[168],"haplotype":[170],"analyses":[171],"were":[172],"conducted.":[173],"We":[174],"observed":[175],"strong":[176],"LD":[177,189],"low":[180],"contrast":[184],"loss":[187],"greater":[191],"number":[192],"haplotypes":[194],"high":[197],"group.":[199],"A":[200],"search":[201],"known":[203,229],"locus":[205],"regulatory":[206],"elements":[207],"5'":[210],"\u03b4-globin":[212],"silencing":[217],"region.":[218],"particular,":[220],"SNP":[221],"rs4910736":[222],"created":[223],"binding":[225,263],"site":[226],"for":[227,238,255,281],"transcription":[230],"repressor":[231,279],"GFi1":[232],"which":[233],"candidate":[236],"protein":[237,264],"further":[239],"investigation.":[240],"Another":[241],"HbF-associated":[242],"SNP,":[243],"rs2855122":[244],"cAMP":[247],"response":[248],"element":[249],"upstream":[250],"G\u03b3-globin,":[252],"was":[253],"analyzed":[254],"functional":[256],"relevance.":[257],"Studies":[258],"siRNA-mediated":[261],"CREB":[262],"(CBP)":[265],"knockdown":[266],"primary":[268],"erythroid":[269],"cells":[270],"demonstrated":[271],"\u03b3-globin":[272],"activation":[273],"induction,":[276],"supporting":[277],"role":[280],"CBP.":[282],"This":[283],"identifies":[285],"possible":[286],"molecular":[287],"determinants":[288],"production.":[291]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":2}],"updated_date":"2026-10-15T10:00:46.086208","created_date":"2025-10-10T00:00:00"}