WBCQ1
MCID: WHT020
MIFTS: 13

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 58 30 6 41
Wbcq1 58

Characteristics:

OMIM:

58
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)


Classifications:



External Ids:

OMIM 58 611862
MedGen 43 C2676078

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.

Description 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:

58
Hematology:
neutropenia, benign

Clinical features from OMIM:

611862

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 30 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:

42
Neutrophil

Publications for White Blood Cell Count Quantitative Trait Locus 1

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

(show all 11)
# Title Authors Year
1
The Duffy blood group system: a review. ( 20932074 )
2010
2
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. ( 19180233 )
2009
3
The Duffy-null state is associated with a survival advantage in leukopenic HIV-infected persons of African ancestry. ( 19620399 )
2009
4
Duffy antigen receptor for chemokines mediates trans-infection of HIV-1 from red blood cells to target cells and affects HIV-AIDS susceptibility. ( 18621010 )
2008
5
Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies. ( 18179887 )
2008
6
The evolutionary significance of cis-regulatory mutations. ( 17304246 )
2007
7
The Duffy protein: a malarial and chemokine receptor. ( 10791881 )
2000
8
Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea. ( 10570183 )
1999
9
Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals. ( 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. ( 8547665 )
1996
11
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. ( 7663520 )
1995

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 Variation Type Significance SNP ID Assembly Location
1 ACKR1 NM_002036.3(ACKR1): c.-67T> C single nucleotide variant Pathogenic,protective rs2814778 GRCh37 Chromosome 1, 159174683: 159174683
2 ACKR1 NM_002036.3(ACKR1): c.-67T> C single nucleotide variant Pathogenic,protective rs2814778 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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