WBCQ1
MCID: WHT020
MIFTS: 14

White Blood Cell Count Quantitative Trait Locus 1 (WBCQ1)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for White Blood Cell Count Quantitative Trait Locus 1

MalaCards integrated aliases for White Blood Cell Count Quantitative Trait Locus 1:

Name: White Blood Cell Count Quantitative Trait Locus 1 57 29 6 39
Wbcq1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
homozygosity for the common west african allele (rs2814778) eliminates expression of the duffy blood group antigen and explains approximately 20% of population variation in white blood cell count (wbc)


HPO:

31
white blood cell count quantitative trait locus 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 611862
MedGen 41 C2676078
SNOMED-CT via HPO 68 258211005

Summaries for White Blood Cell Count Quantitative Trait Locus 1

MalaCards based summary : White Blood Cell Count Quantitative Trait Locus 1, is also known as wbcq1. An important gene associated with White Blood Cell Count Quantitative Trait Locus 1 is ACKR1 (Atypical Chemokine Receptor 1 (Duffy Blood Group)). Affiliated tissues include neutrophil.

More information from OMIM: 611862

Related Diseases for White Blood Cell Count Quantitative Trait Locus 1

Symptoms & Phenotypes for White Blood Cell Count Quantitative Trait Locus 1

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
neutropenia, benign

Clinical features from OMIM®:

611862 (Updated 20-May-2021)

Drugs & Therapeutics for White Blood Cell Count Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for White Blood Cell Count Quantitative Trait Locus 1

Genetic Tests for White Blood Cell Count Quantitative Trait Locus 1

Genetic tests related to White Blood Cell Count Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 White Blood Cell Count Quantitative Trait Locus 1 29 ACKR1

Anatomical Context for White Blood Cell Count Quantitative Trait Locus 1

MalaCards organs/tissues related to White Blood Cell Count Quantitative Trait Locus 1:

40
Neutrophil

Publications for White Blood Cell Count Quantitative Trait Locus 1

Articles related to White Blood Cell Count Quantitative Trait Locus 1:

(show all 14)
# Title Authors PMID Year
1
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. 6 57
19180233 2009
2
Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies. 6 57
18179887 2008
3
The Duffy blood group system: a review. 6
20932074 2010
4
The Duffy-null state is associated with a survival advantage in leukopenic HIV-infected persons of African ancestry. 6
19620399 2009
5
Duffy antigen receptor for chemokines mediates trans-infection of HIV-1 from red blood cells to target cells and affects HIV-AIDS susceptibility. 6
18621010 2008
6
The evolutionary significance of cis-regulatory mutations. 6
17304246 2007
7
The Duffy protein: a malarial and chemokine receptor. 6
10791881 2000
8
Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea. 6
10570183 1999
9
Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals. 6
8651934 1996
10
Identification of a novel exon and spliced form of Duffy mRNA that is the predominant transcript in both erythroid and postcapillary venule endothelium. 6
8547665 1996
11
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. 6
7663520 1995
12
Leukopenia, neutropenia, and reduced hemoglobin levels in healthy American blacks. 57
2001132 1991
13
Normal values for peripheral blood white cell counts in women of four different ethnic origins. 57
6693578 1984
14
Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume. 61
16261417 2005

Variations for White Blood Cell Count Quantitative Trait Locus 1

ClinVar genetic disease variations for White Blood Cell Count Quantitative Trait Locus 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACKR1 NM_002036.3(ACKR1):c.-67T>C SNV association 18395 rs2814778 GRCh37: 1:159174683-159174683
GRCh38: 1:159204893-159204893

Expression for White Blood Cell Count Quantitative Trait Locus 1

Search GEO for disease gene expression data for White Blood Cell Count Quantitative Trait Locus 1.

Pathways for White Blood Cell Count Quantitative Trait Locus 1

GO Terms for White Blood Cell Count Quantitative Trait Locus 1

Sources for White Blood Cell Count Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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