The Duffy antigen receptor for chemokines, <i><scp>ACKR</scp>1</i>,– ‘Jeanne <scp>DARC</scp>’ of benign neutropenia

Rappoport, Naama; Simon, Amos J.; Amariglio, Ninette; Rechavi, Gideon

doi:10.1111/bjh.15730

Cited by 35 publications

(37 citation statements)

References 98 publications

(171 reference statements)

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“…Therefore, further research with larger sample sizes in various populations is required. The Rs2814778, a specific SNP at the DARC gene promoter, results in a DARC-null phenotype and has been found to be a predictor of low counts of leukocyte and neutrophil (26,27). However, in this study, it was found that DARC polymorphism (rs12075) was not significantly associated with white blood counts in HCV positive patients and it is suggested that these two SNPs have different biological functions.…”

Section: Discussioncontrasting

confidence: 64%

Relationship between Duffy Antigen Receptor for Chemokines and Clinical Characteristics in Han People with Chronic Hepatitis C Infection in Dalian, China

Shao¹,

Zhou²,

Liu

2020

ircmj

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Background and Objectives: Most patients with untreated chronic hepatitis C virus (HCV) infection develop hepatic fibrosis. Hepatic disease progression is monitored with hematological markers (alanine aminotransferase [ALT], aspartate aminotransferase [AST], albumin and platelet [PLT] count, AST/ALT ratio, AST/PLT ratio index [APRI], and fibrosis 4 score [FIB-4]) and FibroScan. The present study aimed to investigate the association between Duffy antigen/chemokines receptor (DARC) polymorphisms and clinical parameters in the Han people with chronic hepatitis C infection in Dalian, China. Materials and Methods: This cohort study was performed on 245 Han people with chronic HCV at Dalian infectious hospital during April-December 2015. The participants of the research were selected using the consecutive sampling method. The DARC genotyping was performed using the TaqMan probe method and transient elastography was measured by FibroScan. Results: Based on the findings, DARC polymorphisms correlated with ALT concentrations (FY*A/FY*A vs. FY*A/FY*B, P=0.025). However, the DARC polymorphism did not have an association with HCV RNA titers (FY*A/FY*A vs. FY*A/FY*B, P=0.241) or hepatic fibrosis (FY*A/FY*A vs. FY*A/FY*B, P=0.325). Moreover, correlation analyses showed that APRI (P<0.001, rho=0.603) and FIB-4 (P<0.001, rho=0.698) were useful predictors of hepatic fibrosis in chronic HCV infection. Besides, HCV RNA titers (P=0.327) and hepatic injury markers (P=0.814, 0.198, 0.767, and 0.171 for ALT, AST, ALB, and AST/ALT, respectively) were not useful for the estimation of the fibrosis stage in patients with chronic hepatitis C. Conclusion: The FY*A allele is a potentially valuable protective factor against hepatocyte damage in chronic HCV-infected patients.

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Section: Discussioncontrasting

confidence: 64%

Relationship between Duffy Antigen Receptor for Chemokines and Clinical Characteristics in Han People with Chronic Hepatitis C Infection in Dalian, China

Shao¹,

Zhou²,

Liu

2020

ircmj

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“…[4] Benign, ethnic neutropenia has a high prevalence in individuals of African descent. [36,37] Therefore, ethnic neutropenia should be considered and ruled out in individuals who present with low neutrophil counts (<2 500 cells/µL). [38]…”

Section: Hiv-associated Neutropeniamentioning

confidence: 99%

HIV and haematopoiesis

et al. 2019

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Human immunodeficiency virus (HIV) infection not only leads to a compromised immune system, but also disrupts normal haematopoiesis, resulting in the frequent manifestation of cytopenias (anaemia, thrombocytopenia and neutropenia). Although there is a definite association between the severity of cytopenia and HIV disease stage, this relationship is not always linear. For example, cytopenias such as thrombocytopenia may occur during early stages of infection. The aetiology of these haematological abnormalities is complex and multifactorial, including druginduced impaired haematopoiesis, bone marrow suppression due to infiltration of infectious agents or malignant cells, HIV-induced impaired haematopoiesis, and several other factors. In this review, we describe the frequencies of anaemia, thrombocytopenia and neutropenia reported for HIV-infected, treatment-naïve cohorts studied in eastern and southern sub-Saharan African countries. We present a rational approach for the use of diagnostic tests during the workup of HIV-infected patients presenting with cytopenia, and discuss how HIV impacts on haematopoietic stem/progenitor cells (HSPCs) resulting in impaired haematopoiesis. Finally, we describe the direct and indirect effects of HIV on HSPCs which result in defective haematopoiesis leading to cytopenias. S Afr Med J 2019;109(8 Suppl 1):S41-S46. https://doi.org/10.7196/SAMJ.2019.v109i8b.13829 Fig. 1. Schematic illustration of the differentiation of haematopoietic stem/progenitor cells (HSPCs) into mature blood cell types. (MPP = multipotent progenitor; CMP = common myeloid progenitor; CLP = common lymphoid progenitor; MEP = megakaryocyte-erythroid progenitor; GMP = granulocytemacrophage progenitor; NK = natural killer cell.)

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“…sickle cell, α/β-thalassemia) more common among African, Mediterranean and Asian populations (Beutler and West, 2005; Raffield et al, 2018; Rana et al, 1993). AFR individuals tend to have lower WBC and neutrophil counts partly because of the Duffy/ DARC null variant (Rappoport et al, 2019). Among Hispanics/Latinos (HA), a common Native American functional intronic variant of ACTN1 is associated with lower PLT count (Schick et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

Chen

Raffield

Mousas

et al. 2020

Preprint

159

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words) 13Most loci identified by GWAS have been found in populations of European ancestry (EA). In 14 trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 15 non-EA individuals, we identified 5,552 trait-variant associations at P<5x10 -9 , including 71 16 novel loci not found in EA populations. We also identified novel ancestry-specific variants not 17 found in EA, including an IL7 missense variant in South Asians associated with lymphocyte 18 count in vivo and IL7 secretion levels in vitro. Fine-mapping prioritized variants annotated as 19 functional, and generated 95% credible sets that were 30% smaller when using the trans-ethnic 20 as opposed to the EA-only results. We explored the clinical significance and predictive value of 21 trans-ethnic variants in multiple populations, and compared genetic architecture and the impact 22 of natural selection on these blood phenotypes between populations. Altogether, our results for 23 hematological traits highlight the value of a more global representation of populations in genetic 24 studies. 25 26 4 causal variants (Li and Keating, 2014). Since blood cells play a key role in pathogen invasion, 50 defense and inflammatory responses, hematologic-associated genetic loci are particularly 51 predisposed to be differentiated across ancestral populations as a result of population history and 52 local evolutionary selective pressures (Ding et al., 2013; Lo et al., 2011; Raj et al., 2013). Given 53 the essential role of blood cells in tissue oxygen delivery, inflammatory responses, atherosclerosis, 54 and thrombosis (Byrnes and Wolberg, 2017; Chu et al., 2010; Colin et al., 2014; Tajuddin et al., 55 2016), factors that contribute to such inter-population differences in blood-cell traits may also play 56 appreciable roles in the pathogenesis of chronic diseases and health disparities between 57 populations. 58 59 5 RESULTS 60 Trans-ethnic and ancestry-specific blood-cell traits genetic associations 61We analyzed genotype-phenotype associations at up to 45 million autosomal variants in 746,667 62 participants, including 184,424 individuals of non-EA descent, for 15 traits (Figure 1, 63 Supplementary Tables 1-4, and Methods). The association results of the EA-specific meta-64 analyses are reported separately in a companion paper. In the trans-ethnic meta-analyses, we 65 identified 5,552 trait-variant associations at P<5x10 -9 , which include 71 novel associations not 66 reported in the EA-specific manuscript ( Supplementary Table 5). Of the 5,552 trans-ethnic loci, 67 128 showed strong evidence of allelic effect heterogeneity across populations (Pancestry.hetero <5x10 -68 9 ) ( Supplementary Figure 1 and Supplementary Table 5). Ancestry-specific meta-analyses 69 revealed 28 novel trait-variant associations (Figure 1 and Supplementary Tables 6-10). 70However, 19 out of these 21 novel AFR-specific associations map to chromosome 1 and are 71 associated with WBC or neutrophil counts, therefore reflecting long-range associations due...

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The Duffy antigen receptor for chemokines, ACKR1,– ‘Jeanne DARC’ of benign neutropenia

Cited by 35 publications

References 98 publications

Relationship between Duffy Antigen Receptor for Chemokines and Clinical Characteristics in Han People with Chronic Hepatitis C Infection in Dalian, China

Relationship between Duffy Antigen Receptor for Chemokines and Clinical Characteristics in Han People with Chronic Hepatitis C Infection in Dalian, China

HIV and haematopoiesis

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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