ID

45685

Beskrivning

Principal Investigator: Stephen S. Rich, PhD, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA MeSH: Diabetes Mellitus, Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001222 The Type 1 Diabetes Genetics Consortium (T1DGC) was established to collect resources (biological samples and data) and conduct research to better understand the genetic basis of type 1 diabetes (T1D). Collection was initiated by ascertaining affected sib-pair families (both parents, two affected siblings and, when available, an unaffected sibling), collected from five geographic regions through four recruitment networks (Asia-Pacific, Europe, North America, United Kingdom). In addition, the T1DGC collected trio families (both parents and affected child) and cases and controls from low-prevalence populations (African-American, with four grandparents self-reporting as African ancestry; Mexican-American, with four grandparents self-reporting as ancestry from Mexico). The T1DGC also served as a repository for contributed collections from other studies, all meeting the broad data-sharing policy of the T1DGC, for inclusion in the genetic studies. These collections include T1D case samples ascertained from the UK Genetic Resource Investigating Diabetes (UK GRID) cohort, SEARCH for Diabetes in Youth (SEARCH), The Genetics of Kidneys in Diabetes (GoKinD), and control samples obtained from the British 1958 Birth Cohort, the UK National Blood Services collection, CLEAR (Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis), the New York Cancer Project (NYCP), and other cohorts. For the NHGRI-funded Centers for Common Disease Genomics (CCDG) project, participants with T1D and ancestry-matched controls were identified through the T1DGC, either through direct ascertainment or by contribution from other sources to the T1DGC. As the CCDG has focused initially on non-Caucasian populations for whole genome sequencing, T1DGC participants of African, Mexican and Asian ancestry (targeting ~1200 cases and ~1200 controls in each ancestral group) and a small group of participants of Northern European ancestry (~100 cases, ~100 controls) were to be contributed to the study. Whole genome sequencing of T1DGC samples would be conducted at Washington University McDonnell Genome Institute and based upon matching case-control status within an ancestry group and prioritization by the CCDG.

Länk

dbGaP study = phs001222

Nyckelord

Versioner (1)
  1. 2023-05-02 2023-05-02 - Simon Heim
Rättsinnehavare

Stephen S. Rich, PhD, Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA

Uppladdad den

2 maj 2023

DOI

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Licens

Creative Commons BY 4.0
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dbGaP phs001222 CCDG - Whole Genome Sequencing in Type 1 Diabetes (T1DGC)

Engelsk

Eligibility Criteria

5 Formulär  
Inclusion and exclusion criteria
Beskrivning

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
To be included in the T1DGC study, families, trios and case-control units had to meet specific criteria. For an affected sibling pair (ASP) family to be enrolled into the T1DGC, the family had to have at least one ASP available for sampling, with preference given to families with availability of one or both biological parents and at least one unaffected sibling. For trio families, both parents were necessary to include with the single T1D case. For cases, the individual had to be diagnosed with type 1 diabetes (T1D) with onset < 16 years and required use of insulin within 6 months of diagnosis with no concomitant disease or disorder associated with diabetes. The same diagnostic criteria hold for the case in trio families, and the proband in ASP families. In ASP families, the affected sibling could be included with onset < 35 years. For controls, the participant had no evidence of type 1 diabetes.
Beskrivning

To be included in the T1DGC study, families, trios and case-control units had to meet specific criteria. For an affected sibling pair (ASP) family to be enrolled into the T1DGC, the family had to have at least one ASP available for sampling, with preference given to families with availability of one or both biological parents and at least one unaffected sibling. For trio families, both parents were necessary to include with the single T1D case. For cases, the individual had to be diagnosed with type 1 diabetes (T1D) with onset < 16 years and required use of insulin within 6 months of diagnosis with no concomitant disease or disorder associated with diabetes. The same diagnostic criteria hold for the case in trio families, and the proband in ASP families. In ASP families, the affected sibling could be included with onset < 35 years. For controls, the participant had no evidence of type 1 diabetes.

Datatyp

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0015576
UMLS CUI [1,3]
C0007328
UMLS CUI [1,4]
C0037047
UMLS CUI [1,5]
C0392760
UMLS CUI [1,6]
C3846158
UMLS CUI [1,7]
C0870078
UMLS CUI [2,1]
C0030551
UMLS CUI [2,2]
C0011854
UMLS CUI [3,1]
C0011854
UMLS CUI [3,2]
C0001779
UMLS CUI [3,3]
C1549444
UMLS CUI [3,4]
C0243087
UMLS CUI [4,1]
C0679228
UMLS CUI [4,2]
C3846158
UMLS CUI [4,3]
C0392760
UMLS CUI [4,4]
C0037047
UMLS CUI [4,5]
C0001779
UMLS CUI [5,1]
C0009932
UMLS CUI [5,2]
C0332125
UMLS CUI [5,3]
C0011854
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Similar models

Eligibility Criteria

5 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
To be included in the T1DGC study, families, trios and case-control units had to meet specific criteria. For an affected sibling pair (ASP) family to be enrolled into the T1DGC, the family had to have at least one ASP available for sampling, with preference given to families with availability of one or both biological parents and at least one unaffected sibling. For trio families, both parents were necessary to include with the single T1D case. For cases, the individual had to be diagnosed with type 1 diabetes (T1D) with onset < 16 years and required use of insulin within 6 months of diagnosis with no concomitant disease or disorder associated with diabetes. The same diagnostic criteria hold for the case in trio families, and the proband in ASP families. In ASP families, the affected sibling could be included with onset < 35 years. For controls, the participant had no evidence of type 1 diabetes.
Item
To be included in the T1DGC study, families, trios and case-control units had to meet specific criteria. For an affected sibling pair (ASP) family to be enrolled into the T1DGC, the family had to have at least one ASP available for sampling, with preference given to families with availability of one or both biological parents and at least one unaffected sibling. For trio families, both parents were necessary to include with the single T1D case. For cases, the individual had to be diagnosed with type 1 diabetes (T1D) with onset < 16 years and required use of insulin within 6 months of diagnosis with no concomitant disease or disorder associated with diabetes. The same diagnostic criteria hold for the case in trio families, and the proband in ASP families. In ASP families, the affected sibling could be included with onset < 35 years. For controls, the participant had no evidence of type 1 diabetes.
boolean
C1512693 (UMLS CUI [1,1])
C0015576 (UMLS CUI [1,2])
C0007328 (UMLS CUI [1,3])
C0037047 (UMLS CUI [1,4])
C0392760 (UMLS CUI [1,5])
C3846158 (UMLS CUI [1,6])
C0870078 (UMLS CUI [1,7])
C0030551 (UMLS CUI [2,1])
C0011854 (UMLS CUI [2,2])
C0011854 (UMLS CUI [3,1])
C0001779 (UMLS CUI [3,2])
C1549444 (UMLS CUI [3,3])
C0243087 (UMLS CUI [3,4])
C0679228 (UMLS CUI [4,1])
C3846158 (UMLS CUI [4,2])
C0392760 (UMLS CUI [4,3])
C0037047 (UMLS CUI [4,4])
C0001779 (UMLS CUI [4,5])
C0009932 (UMLS CUI [5,1])
C0332125 (UMLS CUI [5,2])
C0011854 (UMLS CUI [5,3])
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