ID

45055

Descrição

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

Palavras-chave

  1. 04/08/2022 04/08/2022 - Chiara Middel
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

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

Transferido a

4 de agosto de 2022

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000433 The Sea Islands Genetic Network (SIGNET)

The sample attributes data table includes sample type, body site where sample was extracted, sample analyte type and additional comments to indicate rela duplicate samples genotyped for QC.

pht002437
Descrição

pht002437

De-identified sample ID
Descrição

SAMPID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Descrição

BODY_SITE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C1515974
UMLS CUI [1,2]
C0200345
Analyte type
Descrição

ANALYTE_TYPE

Tipo de dados

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Descrição

IS_TUMOR

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0475752

Similar models

The sample attributes data table includes sample type, body site where sample was extracted, sample analyte type and additional comments to indicate rela duplicate samples genotyped for QC.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht002437
SAMPID
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
BODY_SITE
Item
Body site where sample was collected
string
C1515974 (UMLS CUI [1,1])
C0200345 (UMLS CUI [1,2])
ANALYTE_TYPE
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
Code List
Tumor status
CL Item
No (N)
CL Item
Yes (Y)

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