Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/39880
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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDINARDO, Carla L.
dc.contributor.authorOLIVEIRA, Theo G. M.
dc.contributor.authorKELLY, Shannon
dc.contributor.authorASHLEY-KOCH, Allison
dc.contributor.authorTELEN, Marilyn
dc.contributor.authorSCHMIDT, Luciana C.
dc.contributor.authorCASTILHO, Shirley
dc.contributor.authorMELO, Karla
dc.contributor.authorDEZAN, Marcia R.
dc.contributor.authorWHEELER, Marsha M.
dc.contributor.authorJOHNSEN, Jill M.
dc.contributor.authorNICKERSON, Deborah A.
dc.contributor.authorJAIN, Deepti
dc.contributor.authorCUSTER, Brian
dc.contributor.authorPEREIRA, Alexandre C.
dc.contributor.authorSABINO, Ester C.
dc.date.accessioned2021-04-15T19:53:29Z-
dc.date.available2021-04-15T19:53:29Z-
dc.date.issued2021
dc.identifier.citationTRANSFUSION, v.61, n.2, p.603-616, 2021
dc.identifier.issn0041-1132
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/39880-
dc.description.abstractBackground Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to individuals with sickle cell disease (SCD), who frequently undergo chronic transfusion therapy with antigen-matched units. The goal was to describe the diversity and the frequency of variants in SLC14A1, ACKR1, and KEL genes among individuals with SCD using whole genome sequencing (WGS) data. Study Design and Methods Two large SCD cohorts were studied: the Recipient Epidemiology and Donor Evaluation Study III (REDS-III) (n = 2634) and the Outcome Modifying Gene in SCD (OMG) (n = 640). Most of the studied individuals were of mixed origin. WGS was performed as part of the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine (TOPMed) program. Results In SLC14A1, variants included four encoding a weak Jk(a) phenotype and five null alleles (JK(null)). JKA*01N.09 was the most common JK(null). One possible JK(null) mutation was novel: c.812G>T. In ACKR1, identified variants included two that predicted Fy(x) (FY*X) and one corresponding to the c.-67T>C GATA mutation. The c.-67T>C mutation was associated with FY*A (FY*01N.01) in four participants. FY*X was identified in 49 individuals. In KEL, identified variants included three null alleles (KEL*02N.17, KEL*02N.26, and KEL*02N.04) and one allele predicting K-mod phenotype, all in heterozygosity. Conclusions We described the diversity and distribution of SLC14A1, ACKR1, and KEL variants in two large SCD cohorts, comprising mostly individuals of mixed ancestry. This information may be useful for planning the transfusion support of patients with SCD.eng
dc.description.sponsorshipNHLBIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI)
dc.description.sponsorshipTOPMed Informatics Research Center [3R01HL-117626-02S1, HHSN268201800002I]
dc.description.sponsorshipTOPMed Data Coordinating Center [R01HL-120393, U01HL-120393, HHSN268201800001I]
dc.description.sponsorshipNHLBI of the National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI) [HL068959, HL079915]
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofTransfusion
dc.rightsrestrictedAccesseng
dc.subjectblood group genomicseng
dc.subjecthematology &#8211eng
dc.subjectred cellseng
dc.subjectimmunohematology (RBC serologyeng
dc.subjectblood groups)eng
dc.subject.otherred-blood-celleng
dc.subject.othermolecular-basiseng
dc.subject.othernull phenotypeeng
dc.subject.othertransfusioneng
dc.subject.otheralloimmunizationeng
dc.subject.otherexpressioneng
dc.subject.otherpreventioneng
dc.subject.otherstrategyeng
dc.subject.otherarg89cyseng
dc.subject.othermutationeng
dc.titleDiversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Programeng
dc.typearticleeng
dc.rights.holderCopyright WILEYeng
dc.contributor.groupauthorNHLBI Recipient Epidemiology Donor
dc.contributor.groupauthorOutcome Modifying Genes OMG Study
dc.contributor.groupauthorNHLBI Trans-Omics Precision Med TO
dc.identifier.doi10.1111/trf.16204
dc.identifier.pmid33231305
dc.subject.wosHematologyeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
hcfmusp.author.externalKELLY, Shannon:Vitalant Res Inst, San Francisco, CA USA
hcfmusp.author.externalASHLEY-KOCH, Allison:Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA
hcfmusp.author.externalTELEN, Marilyn:Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA
hcfmusp.author.externalSCHMIDT, Luciana C.:Fundacao HEMOMINAS, Belo Horizonte, MG, Brazil
hcfmusp.author.externalCASTILHO, Shirley:HEMORIO, Rio De Janeiro, Brazil
hcfmusp.author.externalMELO, Karla:Fundacao HEMOPE, Recife, PE, Brazil
hcfmusp.author.externalWHEELER, Marsha M.:Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA
hcfmusp.author.externalJOHNSEN, Jill M.:Univ Washington, Seattle, WA 98195 USA; Bloodworks Res Inst, Seattle, WA USA
hcfmusp.author.externalNICKERSON, Deborah A.:Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA
hcfmusp.author.externalJAIN, Deepti:Univ Washington, Seattle, WA 98195 USA
hcfmusp.author.externalCUSTER, Brian:Vitalant Res Inst, San Francisco, CA USA
hcfmusp.description.beginpage603
hcfmusp.description.endpage616
hcfmusp.description.issue2
hcfmusp.description.volume61
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000591677800001
hcfmusp.origem.id2-s2.0-85096650801
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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dc.description.indexMEDLINEeng
dc.identifier.eissn1537-2995
hcfmusp.citation.scopus2-
hcfmusp.scopus.lastupdate2022-09-06-
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Artigos e Materiais de Revistas Científicas - FM/MIP
Departamento de Moléstias Infecciosas e Parasitárias - FM/MIP

Artigos e Materiais de Revistas Científicas - HC/InCor
Instituto do Coração - HC/InCor

Artigos e Materiais de Revistas Científicas - LIM/31
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Artigos e Materiais de Revistas Científicas - LIM/46
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