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ID

45289

Description

Principal Investigator: Matthew Hsieh, MD, National Institutes of Health, NHLBI and NIDDK, Bethesda, MD, USA MeSH: Neutropenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000507 Benign ethnic neutropenia (BEN) is a clinical condition more commonly observed in African-Americans. It is characterized by a relative reduction in neutrophil count by about 1000 cells per microliter, leading to a decrease in total leukocyte count by similar decrement. Previous reports of this condition showed that there was neither higher frequency nor increased severity of infections in affected individuals. Bone marrow examinations showed normal white cell maturation; and ex vivo culture of marrow cells showed low normal or slightly reduced number of myeloid colonies. Under physiologic stress, the increases in neutrophil and leukocyte counts of BEN individuals are slightly lower, compared to normal African-Americans or Caucasians. These clinical observations suggest that BEN results from a lower 'set point' for cell number in the marrow. Additionally, case reports of familial BEN, the persistence of BEN over many decades in the US, UK, and Africa, and the recent report of Duffy antigen and chemokine receptor (DARC) being associated with neutropenia, all suggest a strong genetic association to neutropenia/leukopenia. Our initial look into microarray analyses in a pilot trial of subjects showed that there were no significant differences in mRNA signals between BEN and normal subjects. Therefore, we are now proposing a larger study, utilizing Illumina Omni Express chips, to look for genetic associations. We have partnered with the Reasons for Geographic and Racial Differences in Stroke study (REGARDS), where nearly half of the cohort are African-Americans. This will be one of the few GWAS being performed in only African-Americans, and will provide valuable genetic information to link with neutropenia and possibly other conditions/diseases. Genotyping was performed by the Johns Hopkins University Center for Inherited Disease Research (CIDR). Quality control of the genotypic and phenotypic data was performed through a collaboration between CIDR and the Genetics Coordinating Center, Department of Biostatistics at the University of Washington, which is funded by a federal contract supported by 14 NIH Institutes (HHSN268200782096C).

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000507

Keywords

Versions (2)
  1. 10/14/22 10/14/22 - Chiara Middel
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Matthew Hsieh, MD, National Institutes of Health, NHLBI and NIDDK, Bethesda, MD, USA

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October 14, 2022

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Creative Commons BY 4.0
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    dbGaP phs000507 Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans

    English

    Eligibility Criteria

    6 forms  
    1. StudyEvent: SEV1
      1. Eligibility Criteria
      2. Subject ID, consent group, subject source, and subject source ID of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      3. Subject ID, family ID, mother ID, father ID, and sex of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs old) from the REGARDS" project.
      4. Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      5. Subject ID, age, gender, if participant consent to private research, State in the US where the participant resides, participant history of stroke, participant history of transient ischemic attack, cholesterol, triglycerides, C-reactive protein, blood cell count, and smoking of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      6. Sample ID, analyte type, body site where sample was obtained, and tumor status of sample of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

    Among REGARDS study participants, African-Americans whose leukocyte counts are in the lowest 1-7th percentile are considered to be 'cases,' or 'leukopenic,' or 'neutropenic.' The controls are African-Americans whose leukocyte counts are in 85-95th percentile.
    Description

    Elig.phs000507.v2.p2.1

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C1698493 (Case Subject)
    UMLS CUI [1,2]
    C0085756 (African American)
    SNOMED
    15086000
    LOINC
    LA10610-6
    UMLS CUI [1,3]
    C0005771 (Blood Cell Count)
    SNOMED
    88308000
    UMLS CUI [1,4]
    C0023516 (Leukocytes)
    SNOMED
    52501007
    LOINC
    LP7720-8
    UMLS CUI [1,5]
    C0205251 (low)
    SNOMED
    62482003
    UMLS CUI [1,6]
    C1264641 (Percentile)
    SNOMED
    118583003
    UMLS CUI [2,1]
    C0009932 (Control Groups)
    UMLS CUI [2,2]
    C0085756 (African American)
    SNOMED
    15086000
    LOINC
    LA10610-6
    UMLS CUI [2,3]
    C0005771 (Blood Cell Count)
    SNOMED
    88308000
    UMLS CUI [2,4]
    C0023516 (Leukocytes)
    SNOMED
    52501007
    LOINC
    LP7720-8
    UMLS CUI [2,5]
    C0205250 (High)
    SNOMED
    75540009
    UMLS CUI [2,6]
    C1264641 (Percentile)
    SNOMED
    118583003
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    Similar models

    Eligibility Criteria

    6 forms
    1. StudyEvent: SEV1
      1. Eligibility Criteria
      2. Subject ID, consent group, subject source, and subject source ID of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      3. Subject ID, family ID, mother ID, father ID, and sex of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs old) from the REGARDS" project.
      4. Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      5. Subject ID, age, gender, if participant consent to private research, State in the US where the participant resides, participant history of stroke, participant history of transient ischemic attack, cholesterol, triglycerides, C-reactive protein, blood cell count, and smoking of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
      6. Sample ID, analyte type, body site where sample was obtained, and tumor status of sample of participants with or without benign neutropenia and involved in the "NHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (Age >45 yrs Old) from the REGARDS" project.
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    Inclusion and exclusion criteria
    Elig.phs000507.v2.p2.1
    Item
    Among REGARDS study participants, African-Americans whose leukocyte counts are in the lowest 1-7th percentile are considered to be 'cases,' or 'leukopenic,' or 'neutropenic.' The controls are African-Americans whose leukocyte counts are in 85-95th percentile.
    boolean
    C1698493 (UMLS CUI [1,1])
    C0085756 (UMLS CUI [1,2])
    C0005771 (UMLS CUI [1,3])
    C0023516 (UMLS CUI [1,4])
    C0205251 (UMLS CUI [1,5])
    C1264641 (UMLS CUI [1,6])
    C0009932 (UMLS CUI [2,1])
    C0085756 (UMLS CUI [2,2])
    C0005771 (UMLS CUI [2,3])
    C0023516 (UMLS CUI [2,4])
    C0205250 (UMLS CUI [2,5])
    C1264641 (UMLS CUI [2,6])
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