ID

45055

Description

Principal Investigator: Michele M. Sale, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Type 2 Diabetes Mellitus,Dyslipidemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000433 Recent genome-wide association studies (GWAS) have successfully identified genetic variants that influence diabetes risk in European populations, however most do not have a major impact on diabetes risk in populations of African descent. The African American (AA) population from the Sea Islands of coastal South Carolina and Georgia has high rates of type 2 diabetes, low levels of admixture, and in general, consume a diet rich in saturated fats. We postulate that this unique combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin. The existing DNA samples and rich phenotypic data from the Sea Island Families Project comprise a unique resource for genetic studies of type 2 diabetes and related metabolic traits such as dyslipidemia. Our central hypothesis is that the increased risk for T2DM in AA compared with European American (EA) is due, in part, to susceptibility alleles of African origin, and that these alleles can be identified using a GWAS. The Specific Aims are to: 1) Identify genetic risk factors for type 2 diabetes utilizing DNA samples and data from the Sea Island Families Project, Reasons for Geographic and Racial Differences in Stroke (REGARDS) Study recruited from SC, GA, NC, and AL; and a GWAS approach; 2) Identify genetic contributors to lipoprotein subclasses in African Americans using the lipoprotein subclass profile (particle size and concentration for multiple subclasses of VLDL, LDL, and HDL) assessed by NMR at LipoScience, Inc., and the GWAS data from Aim 1. The rationale for this project is that identification and validation of novel pathophysiological pathways and informed selection of candidate genes for diabetes risk will inform development of new, targeted prevention and treatment strategies in this underserved, high risk population.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000433

Keywords

  1. 8/4/22 8/4/22 - Chiara Middel
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Michele M. Sale, PhD, University of Virginia, Charlottesville, VA, USA

Uploaded on

August 4, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000433 The Sea Islands Genetic Network (SIGNET)

This data table contains subject IDs, consent group information, affection status and subject aliases. In this study, there are 4 different subject study sources (COBRE, SUGAR, REGARDS and SLEIGH) and 1 cell repository (Coriell).

pht002433
Description

pht002433

Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430
Source repository where subjects originate
Description

SUBJ_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used in the Source Repository
Description

SOURCE_SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Source of alias subject
Description

SUBJ_SOURCE2

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C1997370
De-identified alias subject ID
Description

SOURCE_SUBJID2

Data type

string

Alias
UMLS CUI [1,1]
C1997370
UMLS CUI [1,2]
C4684638
Case control status of the subject
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

This data table contains subject IDs, consent group information, affection status and subject aliases. In this study, there are 4 different subject study sources (COBRE, SUGAR, REGARDS and SLEIGH) and 1 cell repository (Coriell).

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002433
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
Subjects did not participate in the study, did not complete a consent document and are included only for the pedigree structure and/or genotype controls, such as HapMap subjects (0)
CL Item
General Research Use (GRU) (1)
CL Item
General Research Use except HIV/AIDS (LGRU) (2)
CL Item
Stroke and Risk factors for stroke (SR) (3)
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
SUBJ_SOURCE2
Item
Source of alias subject
string
C0449416 (UMLS CUI [1,1])
C1997370 (UMLS CUI [1,2])
SOURCE_SUBJID2
Item
De-identified alias subject ID
string
C1997370 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (Non-Diabetic) (1)
C0009932 (UMLS CUI [1,1])
CL Item
Case (Type 2 Diabetes) (2)
C1706256 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
CL Item
Case (Type 1 Diabetes) (3)
C1706256 (UMLS CUI [1,1])
C0011854 (UMLS CUI [1,2])
CL Item
Case (Diabetes type unknown) (4)
C1706256 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C0439673 (UMLS CUI [1,4])
CL Item
Diabetes status unknown (5)
C0011849 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
C0439673 (UMLS CUI [1,3])

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