ID

45959

Beschreibung

Principal Investigator: Michael Boehnke, University of Michigan, Ann Arbor, MI, USA MeSH: Diabetes Mellitus, Type 2 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000867 The Finland-United States Investigation of NIDDM Genetics (FUSION) study is a long-term effort to identify genetic variants that predispose to type 2 diabetes (T2D) or that impact the variability of T2D-related quantitative traits. The initial effort involved linkage analysis of affected-sibling-pair (ASP) families based on over 5,000 individuals living in Finland, and association fine mapping based on these family members and additional T2D cases and controls. We completed a genome-wide association scan on 1161 T2D cases and 1174 normal glucose tolerant (NGT) controls. Individual-level data is available for the 919 T2D cases and 787 NGT controls who reconsented to the use of their data or are deceased (phs000100). In addition, we selected these 919 T2D cases and a matched set of 919 NGT controls (774 overlapping with GWAS) for targeted sequencing of 78 genes associated with glucose, insulin, and/or lipids. 400 of these T2D cases were also chosen for whole-exome sequencing (phs000702).

Link

dbGaP study=phs000867

Stichworte

Versionen (1)
  1. 16.03.24 16.03.24 - Madita Rudolph
Rechteinhaber

Michael Boehnke, University of Michigan, Ann Arbor, MI, USA

Hochgeladen am

16. März 2024

DOI

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Lizenz

Creative Commons BY 4.0
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dbGaP phs000867 The Finland-United States Investigation of NIDDM Genetics (FUSION) Study

Englisch

Eligibility Criteria

8 Formulare  
Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Cases*: T2D cases were selected from FUSION ASP families, each reporting at least one T2D sibling, and from Finrisk 2002, a Finnish population-based risk factor survey. T2D was defined by WHO 1999 criteria of fasting plasma glucose >= 7.0 mmol/l or 2-h plasma glucose >= 11.1 mmol/l, by report of diabetes medication use, or based on medical record review. FUSION cases with known or probable type 1 diabetes among their first degree relatives were excluded.
Beschreibung

Elig.phs000867.v1.p1.1

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0011860
UMLS CUI [1,4]
C0037047
UMLS CUI [1,5]
C0035648
UMLS CUI [2,1]
C1706256
UMLS CUI [2,2]
C0680251
UMLS CUI [2,3]
C0011854
UMLS CUI [2,4]
C1517194
*Controls*: NGT controls for GWAS were selected from FUSION, including subjects from Vantaa, Finland, who were NGT at ages 65 and 70 years, and spouses of FUSION subjects, and from Finrisk 2002. Additional NGT controls for sequencing were selected from D2D 2004, Finrisk 1987, Health 2000, and the Savitaipale Diabetes Study. NGT was defined by WHO 1999 criteria of fasting glucose < 6.1 mmol/l and 2-h glucose < 7.8 mmol/l. Controls were frequency-matched to the cases as described in the sub-study descriptions.
Beschreibung

Elig.phs000867.v1.p1.2

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0438251
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Ähnliche Modelle

Eligibility Criteria

8 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000867.v1.p1.1
Item
*Cases*: T2D cases were selected from FUSION ASP families, each reporting at least one T2D sibling, and from Finrisk 2002, a Finnish population-based risk factor survey. T2D was defined by WHO 1999 criteria of fasting plasma glucose >= 7.0 mmol/l or 2-h plasma glucose >= 11.1 mmol/l, by report of diabetes medication use, or based on medical record review. FUSION cases with known or probable type 1 diabetes among their first degree relatives were excluded.
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0011860 (UMLS CUI [1,3])
C0037047 (UMLS CUI [1,4])
C0035648 (UMLS CUI [1,5])
C1706256 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0011854 (UMLS CUI [2,3])
C1517194 (UMLS CUI [2,4])
Elig.phs000867.v1.p1.2
Item
*Controls*: NGT controls for GWAS were selected from FUSION, including subjects from Vantaa, Finland, who were NGT at ages 65 and 70 years, and spouses of FUSION subjects, and from Finrisk 2002. Additional NGT controls for sequencing were selected from D2D 2004, Finrisk 1987, Health 2000, and the Savitaipale Diabetes Study. NGT was defined by WHO 1999 criteria of fasting glucose < 6.1 mmol/l and 2-h glucose < 7.8 mmol/l. Controls were frequency-matched to the cases as described in the sub-study descriptions.
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0438251 (UMLS CUI [1,3])
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