White blood cell count quantitative trait locus 1(WBCQ1)

MedGen UID:: 390954
•Concept ID:: C2676078
•: Finding

Synonym:	WBCQ1

Gene (location): Gene(s) directly associated with this condition or phenotype.	ACKR1 (1q23.2)

OMIM®:	611862

Definition

Individuals with the Duffy-null phenotype (see 110700) have a low white blood cell count due to a low neutrophil count, which is of no clinical significance. The Duffy-null phenotype results from the absence of a red cell antigen due to a promoter variant in the ACKR1 gene (613655.0002) and confers resistance to plasmodium vivax malaria (summary by Hantel et al., 2024). [from OMIM]

Recent clinical studies

Etiology

Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations.

Wen J, Xie M, Rowland B, Rosen JD, Sun Q, Chen J, Tapia AL, Qian H, Kowalski MH, Shan Y, Young KL, Graff M, Argos M, Avery CL, Bien SA, Buyske S, Yin J, Choquet H, Fornage M, Hodonsky CJ, Jorgenson E, Kooperberg C, Loos RJF, Liu Y, Moon JY, North KE, Rich SS, Rotter JI, Smith JA, Zhao W, Shang L, Wang T, Zhou X, Reiner AP, Raffield LM, Li Y
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071049. PMID: 34356065 Free PMC Article

Innate inflammation drives NK cell activation to impair Treg activity.

Dean JW, Peters LD, Fuhrman CA, Seay HR, Posgai AL, Stimpson SE, Brusko MA, Perry DJ, Yeh WI, Newby BN, Haller MJ, Muir AB, Atkinson MA, Mathews CE, Brusko TM
J Autoimmun 2020 Mar;108:102417. Epub 2020 Feb 6 doi: 10.1016/j.jaut.2020.102417. PMID: 32035746 Free PMC Article

Evaluation of mitochondrial DNA copy number estimation techniques.

Longchamps RJ, Castellani CA, Yang SY, Newcomb CE, Sumpter JA, Lane J, Grove ML, Guallar E, Pankratz N, Taylor KD, Rotter JI, Boerwinkle E, Arking DE
PLoS One 2020;15(1):e0228166. Epub 2020 Jan 31 doi: 10.1371/journal.pone.0228166. PMID: 32004343 Free PMC Article

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

CHARGE Consortium Hematology Working Group
Nat Genet 2016 Aug;48(8):867-76. Epub 2016 Jul 11 doi: 10.1038/ng.3607. PMID: 27399967 Free PMC Article

Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.

McLachlan S, Giambartolomei C, White J, Charoen P, Wong A, Finan C, Engmann J, Shah T, Hersch M, Podmore C, Cavadino A, Jefferis BJ, Dale CE, Hypponen E, Morris RW, Casas JP, Kumari M, Ben-Shlomo Y, Gaunt TR, Drenos F, Langenberg C, Kuh D, Kivimaki M, Rueedi R, Waeber G, Hingorani AD, Price JF, Walker AP; UCLEB Consortium
PLoS One 2016;11(6):e0156914. Epub 2016 Jun 9 doi: 10.1371/journal.pone.0156914. PMID: 27280446 Free PMC Article

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Diagnosis

A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11.

Evans DM, Zhu G, Duffy DL, Frazer IH, Montgomery GW, Martin NG
Genes Immun 2004 Nov;5(7):548-52. doi: 10.1038/sj.gene.6364126. PMID: 15306848

See all (1)

Therapy

Genetic loci on chromosome 5 are associated with circulating levels of interleukin-5 and eosinophil count in a European population with high risk for cardiovascular disease.

McLeod O, Silveira A, Valdes-Marquez E, Björkbacka H, Almgren P, Gertow K, Gådin JR, Bäcklund A, Sennblad B, Baldassarre D, Veglia F, Humphries SE, Tremoli E, de Faire U, Nilsson J, Melander O, Hopewell JC, Clarke R, Björck HM, Hamsten A, Öhrvik J, Strawbridge RJ; IMPROVE Study Group
Cytokine 2016 May;81:1-9. Epub 2016 Jan 25 doi: 10.1016/j.cyto.2016.01.007. PMID: 26821299 Free PMC Article

The balance between CD45RChigh and CD45RClow CD4 T cells in rats is intrinsic to bone marrow-derived cells and is genetically controlled.

Subra JF, Cautain B, Xystrakis E, Mas M, Lagrange D, van der Heijden H, van de Gaar MJ, Druet P, Fournié GJ, Saoudi A, Damoiseaux J
J Immunol 2001 Mar 1;166(5):2944-52. doi: 10.4049/jimmunol.166.5.2944. PMID: 11207243

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Prognosis

DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants.

Biddie SC, Weykopf G, Hird EF, Friman ET, Bickmore WA
Genome Biol 2024 Aug 6;25(1):208. doi: 10.1186/s13059-024-03352-1. PMID: 39107801 Free PMC Article

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.

Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MP, Blackwell TW, Brody JA, Broome J, Chami N, Chen MH, Conomos MP, Cox C, Curran JE, Daya M, Ekunwe L, Glahn DC, Heard-Costa N, Highland HM, Hobbs BD, Ilboudo Y, Jain D, Lange LA, Miller-Fleming TW, Min N, Moon JY, Preuss MH, Rosen J, Ryan K, Smith AV, Sun Q, Surendran P, de Vries PS, Walter K, Wang Z, Wheeler M, Yanek LR, Zhong X, Abecasis GR, Almasy L, Barnes KC, Beaty TH, Becker LC, Blangero J, Boerwinkle E, Butterworth AS, Chavan S, Cho MH, Choquet H, Correa A, Cox N, DeMeo DL, Faraday N, Fornage M, Gerszten RE, Hou L, Johnson AD, Jorgenson E, Kaplan R, Kooperberg C, Kundu K, Laurie CA, Lettre G, Lewis JP, Li B, Li Y, Lloyd-Jones DM, Loos RJF, Manichaikul A, Meyers DA, Mitchell BD, Morrison AC, Ngo D, Nickerson DA, Nongmaithem S, North KE, O'Connell JR, Ortega VE, Pankratz N, Perry JA, Psaty BM, Rich SS, Soranzo N, Rotter JI, Silverman EK, Smith NL, Tang H, Tracy RP, Thornton TA, Vasan RS, Zein J, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Reiner AP, Auer PL
Am J Hum Genet 2021 Oct 7;108(10):1836-1851. Epub 2021 Sep 27 doi: 10.1016/j.ajhg.2021.08.007. PMID: 34582791 Free PMC Article

Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations.

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.

Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB; VA Million Veteran Program, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G
Cell 2020 Sep 3;182(5):1198-1213.e14. doi: 10.1016/j.cell.2020.06.045. PMID: 32888493 Free PMC Article

Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.

Ferreira MA, Mangino M, Brumme CJ, Zhao ZZ, Medland SE, Wright MJ, Nyholt DR, Gordon S, Campbell M, McEvoy BP, Henders A, Evans DM, Lanchbury JS, Pereyra F; International HIV Controllers Study, Walker BD, Haas DW, Soranzo N, Spector TD, de Bakker PI, Frazer IH, Montgomery GW, Martin NG
Am J Hum Genet 2010 Jan;86(1):88-92. Epub 2009 Dec 31 doi: 10.1016/j.ajhg.2009.12.008. PMID: 20045101 Free PMC Article

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