ID

45233

Beschreibung

Principal Investigator: Nancy Brown, MD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Angioedema https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000438 The purpose of this study is to identify genetic predictors of ACE inhibitor-associated angioedema. In addition to preventing the formation of the pressor angiotensin II, ACE inhibitors prevent the carboxyl-terminal degradation of the vasoactive substances bradykinin and substance P. Angioedema is hypothesized to result from defective amino-terminal degradation of bradykinin or substance P in patients in whom ACE is inhibited. For example, activity of dipeptidyl peptidase IV (DPP-IV), the enzyme responsible for the inactivation of substance P when ACE is inhibited, is decreased in patients with angioedema. In preliminary studies, we have identified SNPs in the DPP4 gene that associate with DPP-IV activity and, in blacks, with risk of angioedema. This project will use genome-wide genotyping to compare 250 cases and 568 ACE inhibitor-exposed control subjects (131 cases and 288 controls ascertained at Vanderbilt and 70 cases and 280 controls ascertained at the Marshfield Clinic). We plan a 2-stage analysis of associations between SNPs and angioedema - first, we will study DPP4 SNPs for association with angioedema and, second, we will explore associations using the full GWAS data set. Depending on the platform, additional DPP4 SNPs will be used to fully tag common genetic variants in both African American and European American samples. Based on the HapMap data, there are 14 tagging SNPs in people of European descent and 34 in Yoruba (selection criteria MAF0.05 and r20.8). Cases were defined as having ACE inhibitor-associated angioedema if they had had swelling of the lips, throat, tongue or face while taking an ACE inhibitor but had never had angioedema while not taking an ACE inhibitor. For simplicity, intestinal edema was excluded. Control subjects were treated for at least 6 months with an ACE inhibitor without angioedema. Because black Americans are known to be overrepresented among patients with ACE inhibitor-associated angioedema, control subjects were prespecified to be 50% black American, 50% white American, and 50% female. At Vanderbilt, the medical history, including the history of angioedema, was confirmed by a research nurse or physician using a detailed case report form. Characteristics of Vanderbilt cases appear in the Table. At Marshfield, medical history will be confirmed by chart review. The Marshfield cohort is 98% white American and 57% female with a mean age of 47.2 years.

Link

dbGaP study = phs000438

Stichworte

Versionen (3)
  1. 21.07.22 21.07.22 - Simon Heim
  2. 12.10.22 12.10.22 - Adrian Schulz
  3. 29.01.25 29.01.25 - Akane Nishihara
Rechteinhaber

Nancy Brown, MD, Vanderbilt University Medical Center, Nashville, TN, USA

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

Creative Commons BY 4.0
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dbGaP phs000438 PGRN-RIKEN: Identification of Genetic Predictors of ACE Inhibitor-Associated Angioedema

Englisch

Eligibility Criteria

5 Formulare  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    3. Subject ID, sample ID, and sample use of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    4. Subject ID, case or control, age, gender, and race of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    5. Sample ID, body site where sample was collected of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

*Inclusion criteria*
Beschreibung

Inclusion criteria

Datentyp

boolean

Cases: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) With angioedema, defined by swelling of the lips, tongue, pharynx, or face while taking an ACE inhibitor.
Beschreibung

Cases: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) With angioedema, defined by swelling of the lips, tongue, pharynx, or face while taking an ACE inhibitor.

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C0001779
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C1706256
UMLS CUI [2,3]
C0085756
UMLS CUI [2,4]
C0221786
UMLS CUI [3,1]
C1512693
UMLS CUI [3,2]
C1706256
UMLS CUI [3,3]
C0002994
UMLS CUI [3,4]
C0003015
Controls: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) Taken and ACE inhibitor for at least 6 months and never experienced angioedema; 4) May include subjects who experienced cough.
Beschreibung

Controls: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) Taken and ACE inhibitor for at least 6 months and never experienced angioedema; 4) May include subjects who experienced cough.

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0009932
UMLS CUI [1,3]
C0001779
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0009932
UMLS CUI [2,3]
C0085756
UMLS CUI [2,4]
C0221786
UMLS CUI [3,1]
C1512693
UMLS CUI [3,2]
C0009932
UMLS CUI [3,3]
C0003015
UMLS CUI [3,4]
C4082120
UMLS CUI [3,5]
C2003901
UMLS CUI [3,6]
C0002994
UMLS CUI [4,1]
C1512693
UMLS CUI [4,2]
C0009932
UMLS CUI [4,3]
C0010200
*Exclusion criteria for all subjects*
Beschreibung

Exclusion criteria for all subjects

Datentyp

boolean

1) History of angioedema while not taking an ACE inhibitor; 2) Angioedema only involves the bowel; 3) Decreased C1 inhibitor or complement concentrations; 4) Mental conditions which render the subject unable to understand the nature, scope, and possible consequences of the study.
Beschreibung

1) History of angioedema while not taking an ACE inhibitor; 2) Angioedema only involves the bowel; 3) Decreased C1 inhibitor or complement concentrations; 4) Mental conditions which render the subject unable to understand the nature, scope, and possible consequences of the study.

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0002994
UMLS CUI [1,3]
C0003015
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C3888796
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0205216
UMLS CUI [3,3]
C0540301
UMLS CUI [3,4]
C0009498
UMLS CUI [4,1]
C0680251
UMLS CUI [4,2]
C3841804
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Ähnliche Modelle

Eligibility Criteria

5 Formulare
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    3. Subject ID, sample ID, and sample use of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    4. Subject ID, case or control, age, gender, and race of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
    5. Sample ID, body site where sample was collected of participants with or without angioedema and involved in the "A Genome-Wide Association Analysis in Angiotensin-Converting enzyme (ACE) Inhibitor-Associated Angioedema and ACE Inhibitor-Exposed Controls; A Collaboration between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Center for Genomic Medicine" project.
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
Inclusion criteria
Item
*Inclusion criteria*
boolean
Cases: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) With angioedema, defined by swelling of the lips, tongue, pharynx, or face while taking an ACE inhibitor.
Item
Cases: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) With angioedema, defined by swelling of the lips, tongue, pharynx, or face while taking an ACE inhibitor.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C0085756 (UMLS CUI [2,3])
C0221786 (UMLS CUI [2,4])
C1512693 (UMLS CUI [3,1])
C1706256 (UMLS CUI [3,2])
C0002994 (UMLS CUI [3,3])
C0003015 (UMLS CUI [3,4])
Controls: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) Taken and ACE inhibitor for at least 6 months and never experienced angioedema; 4) May include subjects who experienced cough.
Item
Controls: 1) Men or women age 18 or older; 2) African- or Caucasian-Americans; 3) Taken and ACE inhibitor for at least 6 months and never experienced angioedema; 4) May include subjects who experienced cough.
boolean
C1512693 (UMLS CUI [1,1])
C0009932 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C0009932 (UMLS CUI [2,2])
C0085756 (UMLS CUI [2,3])
C0221786 (UMLS CUI [2,4])
C1512693 (UMLS CUI [3,1])
C0009932 (UMLS CUI [3,2])
C0003015 (UMLS CUI [3,3])
C4082120 (UMLS CUI [3,4])
C2003901 (UMLS CUI [3,5])
C0002994 (UMLS CUI [3,6])
C1512693 (UMLS CUI [4,1])
C0009932 (UMLS CUI [4,2])
C0010200 (UMLS CUI [4,3])
Exclusion criteria for all subjects
Item
*Exclusion criteria for all subjects*
boolean
1) History of angioedema while not taking an ACE inhibitor; 2) Angioedema only involves the bowel; 3) Decreased C1 inhibitor or complement concentrations; 4) Mental conditions which render the subject unable to understand the nature, scope, and possible consequences of the study.
Item
1) History of angioedema while not taking an ACE inhibitor; 2) Angioedema only involves the bowel; 3) Decreased C1 inhibitor or complement concentrations; 4) Mental conditions which render the subject unable to understand the nature, scope, and possible consequences of the study.
boolean
C0680251 (UMLS CUI [1,1])
C0002994 (UMLS CUI [1,2])
C0003015 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C3888796 (UMLS CUI [2,2])
C0680251 (UMLS CUI [3,1])
C0205216 (UMLS CUI [3,2])
C0540301 (UMLS CUI [3,3])
C0009498 (UMLS CUI [3,4])
C0680251 (UMLS CUI [4,1])
C3841804 (UMLS CUI [4,2])
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