Functional Evaluation of RNLS, a Gene Harboring Risk Variants for Type 1 Diabetes in European and African Ancestry Subjects

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1702-P
Author(s):  
SUNA ONENGUT-GUMUSCU ◽  
NOAH VOGLER ◽  
MARIA FAIDAS ◽  
REBECCA R. PICKIN ◽  
ELAINE GERSZ ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
African Ancestry ◽  
Functional Evaluation ◽  
Risk Variants

scholarly journals De‐ coding genetic risk variants in type 1 diabetes

2021 ◽  
Author(s):  
Melanie R Shapiro ◽  
Puchong Thirawatananond ◽  
Leeana Peters ◽  
Robert C Sharp ◽  
Similoluwa Ogundare ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Genetic Risk ◽  
Risk Variants ◽  
Genetic Risk Variants

scholarly journals Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score

Diabetes Care ◽  
2019 ◽  
Vol 42 (3) ◽  
pp. 406-415 ◽  
Author(s):  
Suna Onengut-Gumuscu ◽  
Wei-Min Chen ◽  
Catherine C. Robertson ◽  
Jessica K. Bonnie ◽  
Emily Farber ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Risk Score ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
African Ancestry ◽  
Diabetes Risk

1697-P: Functional Impact of Type 1 Diabetes Risk Variants Identified in African- and European-Ancestry Populations

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1697-P
Author(s):  
SUNA ONENGUT ◽  
HANZHI YANG ◽  
REBECCA R. PICKIN ◽  
STEPHEN S. RICH
Keyword(s):  
Type 1 Diabetes ◽  
Diabetes Risk ◽  
European Ancestry ◽  
Functional Impact ◽  
Risk Variants

scholarly journals Fine Mapping and Functional Studies of Risk Variants for Type 1 Diabetes at Chromosome 16p13.13

Diabetes ◽  
2014 ◽  
Vol 63 (12) ◽  
pp. 4360-4368 ◽  
Author(s):  
M. J. Tomlinson ◽  
A. Pitsillides ◽  
R. Pickin ◽  
M. Mika ◽  
K. L. Keene ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Fine Mapping ◽  
Functional Studies ◽  
Risk Variants

scholarly journals Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

2012 ◽  
Vol 21 (12) ◽  
pp. 2815-2824 ◽  
Author(s):  
Chris Wallace ◽  
Maxime Rotival ◽  
Jason D. Cooper ◽  
Catherine M. Rice ◽  
Jennie H.M. Yang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type 1 Diabetes ◽  
Genetic Risk ◽  
Risk Variants ◽  
Genetic Risk Variants

scholarly journals The Immunoregulatory Role of the Signal Regulatory Protein Family and CD47 Signaling Pathway in Type 1 Diabetes

2021 ◽  
Vol 12 ◽  
Author(s):  
Robert C. Sharp ◽  
Matthew E. Brown ◽  
Melanie R. Shapiro ◽  
Amanda L. Posgai ◽  
Todd M. Brusko
Keyword(s):  
Type 1 Diabetes ◽  
Regulatory Protein ◽  
Human Leukocyte ◽  
Significant Heterogeneity ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Risk Variants ◽  
Intronic Polymorphism ◽  
Autoimmune Attack

BackgroundThe pathogenesis of type 1 diabetes (T1D) involves complex genetic susceptibility that impacts pathways regulating host immunity and the target of autoimmune attack, insulin-producing pancreatic β-cells. Interactions between risk variants and environmental factors result in significant heterogeneity in clinical presentation among those who develop T1D. Although genetic risk is dominated by the human leukocyte antigen (HLA) class II and insulin (INS) gene loci, nearly 150 additional risk variants are significantly associated with the disease, including polymorphisms in immune checkpoint molecules, such as SIRPG.Scope of ReviewIn this review, we summarize the literature related to the T1D-associated risk variants in SIRPG, which include a protein-coding variant (rs6043409, G>A; A263V) and an intronic polymorphism (rs2281808, C>T), and their potential impacts on the immunoregulatory signal regulatory protein (SIRP) family:CD47 signaling axis. We discuss how dysregulated expression or function of SIRPs and CD47 in antigen-presenting cells (APCs), T cells, natural killer (NK) cells, and pancreatic β-cells could potentially promote T1D development.Major ConclusionsWe propose a hypothesis, supported by emerging genetic and functional immune studies, which states a loss of proper SIRP:CD47 signaling may result in increased lymphocyte activation and cytotoxicity and enhanced β-cell destruction. Thus, we present several novel therapeutic strategies for modulation of SIRPs and CD47 to intervene in T1D.

248-OR: Type 1 Diabetes Risk Variants Alter the Transcriptional Profile of Beta Cells

Diabetes ◽  
2021 ◽  
Vol 70 (Supplement 1) ◽  
pp. 248-OR
Author(s):  
WIKTORIA RATAJCZAK ◽  
SARAH ATKINSON ◽  
CATRIONA KELLY
Keyword(s):  
Type 1 Diabetes ◽  
Beta Cells ◽  
Diabetes Risk ◽  
Transcriptional Profile ◽  
Risk Variants

scholarly journals Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes

2017 ◽  
Vol 8 ◽  
Author(s):  
Mark A. Wallet ◽  
Katherine E. Santostefano ◽  
Naohiro Terada ◽  
Todd M. Brusko
Keyword(s):  
Type 1 Diabetes ◽  
Genetic Risk ◽  
Cellular Systems ◽  
Systems Model ◽  
Risk Variants ◽  
The Impact ◽  
Genetic Risk Variants
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