Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

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.contributor.groupauthorNHLBI Recipient Epidemiology Donor
dc.contributor.groupauthorOutcome Modifying Genes OMG Study
dc.contributor.groupauthorNHLBI Trans-Omics Precision Med TO
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.identifier.citationTRANSFUSION, v.61, n.2, p.603-616, 2021
dc.rights.holderCopyright WILEYeng
dc.subjectblood group genomicseng
dc.subjecthematology &#8211eng
dc.subjectred cellseng
dc.subjectimmunohematology (RBC serologyeng
dc.subjectblood groups)eng
dc.subject.othernull phenotypeeng
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.type.categoryoriginal articleeng
hcfmusp.affiliation.countryEstados Unidos
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.contributor.author-fmusphcCARLA LUANA DINARDO
hcfmusp.contributor.author-fmusphcTHEO GREMEN MIMARY DE OLIVEIRA
hcfmusp.contributor.author-fmusphcMARCIA REGINA DEZAN
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcESTER CERDEIRA SABINO
hcfmusp.relation.referenceArnoni CP, 2014, TRANSFUSION, V54, P2128, DOI 10.1111/trf.12564eng
hcfmusp.relation.referenceBillingsley Katrina L, 2013, Immunohematology, V29, P145eng
hcfmusp.relation.referenceBoturao-Neto E, 2015, TRANSFUS MED HEMOTH, V42, P52, DOI 10.1159/000370232eng
hcfmusp.relation.referenceBrunetta D, 2017, TRANSFUSION, V57, P487, DOI 10.1111/trf.13933eng
hcfmusp.relation.referenceBurgos A, 2013, TRANSFUSION, V53, p39Aeng
hcfmusp.relation.referenceCarneiro-Proietti ABF, 2018, BRIT J HAEMATOL, V182, P895, DOI 10.1111/bjh.15462eng
hcfmusp.relation.referenceCasas J, 2015, TRANSFUSION, V55, P1388, DOI 10.1111/trf.12987eng
hcfmusp.relation.referenceCastilho L, 2004, VOX SANG, V87, P190, DOI 10.1111/j.1423-0410.2004.00554.xeng
hcfmusp.relation.referenceChou ST, 2017, BLOOD ADV, V1, P1414, DOI 10.1182/bloodadvances.2017007898eng
hcfmusp.relation.referenceChou ST, 2013, BLOOD, V122, P1062, DOI 10.1182/blood-2013-03-490623eng
hcfmusp.relation.referenceDezan M. R., 2016, ISBT SCI SERIES, V11, P132eng
hcfmusp.relation.referenceDezan MR, 2017, BLOOD CELL MOL DIS, V65, P8, DOI 10.1016/j.bcmd.2017.03.014eng
hcfmusp.relation.referenceDinardo CL, 2019, TRANSFUSION, V59, P3228, DOI 10.1111/trf.15479eng
hcfmusp.relation.referenceElmariah H, 2014, AM J HEMATOL, V89, P530, DOI 10.1002/ajh.23683eng
hcfmusp.relation.referenceFichou Y, 2016, VOX SANG, V111, P418, DOI 10.1111/vox.12432eng
hcfmusp.relation.referenceFichou Y, 2020, TRANSFUS MED HEMOTH, V47, P23, DOI 10.1159/000504584eng
hcfmusp.relation.referenceFichou Y, 2014, BRIT J HAEMATOL, V167, P554, DOI 10.1111/bjh.13084eng
hcfmusp.relation.referenceGiollo M, 2015, PLOS ONE, V10, DOI 10.1371/journal.pone.0124579eng
hcfmusp.relation.referenceGuo ZH, 2013, TRANSFUSION, V53, P545, DOI 10.1111/j.1537-2995.2012.03750.xeng
hcfmusp.relation.referenceHamilton Janis R, 2015, Immunohematology, V31, P29eng
hcfmusp.relation.referenceHendrickson JE, 2012, TRANSFUSION, V52, P231, DOI 10.1111/j.1537-2995.2011.03255.xeng
hcfmusp.relation.referenceHoher G, 2018, BLOOD TRANSFUS-ITALY, V16, P93, DOI 10.2450/2017.0119-16eng
hcfmusp.relation.referenceHorn T, 2012, TRANSFUSION, V52, P1092, DOI 10.1111/j.1537-2995.2011.03399.xeng
hcfmusp.relation.referenceKempinska-Podhorodecka A, 2012, MALARIA J, V11, DOI 10.1186/1475-2875-11-115eng
hcfmusp.relation.referenceKormoczi GF, 2007, TRANSFUSION, V47, P703, DOI 10.1111/j.1537-2995.2007.01174.xeng
hcfmusp.relation.referenceLane WJ, 2019, TRANSFUSION, V59, P3253, DOI 10.1111/trf.15473eng
hcfmusp.relation.referenceLane WJ, 2016, TRANSFUSION, V56, P743, DOI 10.1111/trf.13416eng
hcfmusp.relation.referenceLaSalle-Williams M, 2011, TRANSFUSION, V51, P1732, DOI 10.1111/j.1537-2995.2010.03045.xeng
hcfmusp.relation.referenceLee S, 1997, VOX SANG, V73, P1, DOI 10.1046/j.1423-0410.1997.7310001.xeng
hcfmusp.relation.referenceLee S, 2001, J BIOL CHEM, V276, P27281, DOI 10.1074/jbc.M103433200eng
hcfmusp.relation.referenceLemes RB, 2018, PLOS ONE, V13, DOI 10.1371/journal.pone.0196360eng
hcfmusp.relation.referenceMoller M, 2016, BLOOD ADV, V1, P240, DOI 10.1182/bloodadvances.2016001867eng
hcfmusp.relation.referenceMoulds JM, 2013, TRANSFUSION, V53, P2867, DOI 10.1111/trf.12205eng
hcfmusp.relation.referenceOlsson ML, 1998, BRIT J HAEMATOL, V103, P1184, DOI 10.1046/j.1365-2141.1998.01083.xeng
hcfmusp.relation.referencePellegrino J, 2001, J CLIN LAB ANAL, V15, P8eng
hcfmusp.relation.referencePerez I, 2019, TRANSFUS APHER SCI, V58, P453, DOI 10.1016/j.transci.2019.04.025eng
hcfmusp.relation.referencePirenne F, 2017, TRANSFUS CLIN BIOL, V24, P227, DOI 10.1016/j.tracli.2017.05.016eng
hcfmusp.relation.referenceReid ME, 2014, BLOOD CELL MOL DIS, V52, P195, DOI 10.1016/j.bcmd.2013.11.003eng
hcfmusp.relation.referenceROSSE WF, 1990, BLOOD, V76, P1431eng
hcfmusp.relation.referenceSchmid P, 2012, TRANSFUSION, V52, P1260, DOI 10.1111/j.1537-2995.2011.03431.xeng
hcfmusp.relation.referenceGuelsin GAS, 2010, J CLIN LAB ANAL, V24, P311, DOI 10.1002/jcla.20407eng
hcfmusp.relation.referenceStabentheiner S, 2011, VOX SANG, V100, P381, DOI 10.1111/j.1423-0410.2010.01444.xeng
hcfmusp.relation.referenceTournamille C, 1998, BLOOD, V92, P2147, DOI 10.1182/blood.V92.6.2147.418k04_2147_2156eng
hcfmusp.relation.referenceVan Buren NL, 2020, TRANSFUSION, V60, P16, DOI 10.1111/trf.15599eng
hcfmusp.relation.referenceVichinsky EP, 2001, TRANSFUSION, V41, P1086, DOI 10.1046/j.1537-2995.2001.41091086.xeng
hcfmusp.relation.referenceWester ES, 2011, TRANSFUSION, V51, P380, DOI 10.1111/j.1537-2995.2010.02795.xeng
hcfmusp.relation.referenceWheeler MM, 2019, GENET MED, V21, P477, DOI 10.1038/s41436-018-0074-9eng
hcfmusp.relation.referenceXu JZ, 2018, AM J HEMATOL, V93, P1451, DOI 10.1002/ajh.25263eng
hcfmusp.relation.referenceYazdanbakhsh K, 2000, TRANSFUSION, V40, P310, DOI 10.1046/j.1537-2995.2000.40030310.xeng
hcfmusp.relation.referenceZimmerman PA, 1999, P NATL ACAD SCI USA, V96, P13973, DOI 10.1073/pnas.96.24.13973eng
Pacote Original
Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
966.07 KB
Adobe Portable Document Format
publishedVersion (English)