Genetic susceptibility contributes significantly to the development of diabetes, and to other metabolic and endocrine disorders associated with diabetes and their complications. Recent successes in genome wide association and exome sequencing have demonstrated that the technological capability now exists to identify many of the genes responsible for complex disorders. To be successful in such endeavors, it is necessary to combine expertise in genetic epidemiology, clinical investigation, molecular genotyping, DNA sequencing, and mathematical genetic analysis. The goal of the Human Genetics Core is to offer such expertise to DRC investigators conducting studies into the genetics of diabetes, its complications and related endocrine disorders. To achieve this objective, the Human Genetics Core will: 1) assist DRC investigators with initial study design, bioinformatic, data analysis, and data interpretation support;2) establish and maintain EBV transformed lymphoblastoid cell lines and generate nonviable cell pellets for DNA/RNA isolation;3) provide anonymized lymphoblastoid cell lines from subjects well characterized for diabetes and/or insulin sensitivity to DRC investigators for such purposes as searching for variations in specific candidate genes and evaluating differential expression of candidate genes as a function of insulin resistance;4) provide access to molecular methodology for candidate gene and genome wide and specialized high throughput SNP testing, and candidate gene, exome and whole genome sequencing;5) make induced pluripotent stem cells (iPSCs) available to investigators as a means of investigating the impact of specific genetic variants on organ development and tissue function;and 6) provide training to DRC investigators and staff so they can perform many of these procedures themselves, with consultative support from Core staff. In the last cycle, the Human Genetics Core brought GWAS technology to DRC investigators and in this cycle extends the technology available for studying human samples with the addition of specialized genotyping chips, methylation chips, exome sequencing, and iPSC technology. The DRC offers a unique opportunity to facilitate research directed at identifying and characterizing the genes responsible for Type 2 diabetes and related disorders, including both macrovascular and microvascular complications, by providing access to both the expertise and facilities necessary for such genetic research in human populations.

Public Health Relevance

In order to reduce the prevalence and severity of diabetes and its complications, a comprehensive understanding of the pathophysiology of diabetes and related disorders is required. By aiding investigators in the identification of the genes and genetic variants that influence diabetes risk, the Human Genetics Core will be helping to achieve the goal of reducing the burden of this disease.

National Institute of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Center Core Grants (P30)
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Special Emphasis Panel (ZDK1-GRB-S)
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University of California San Diego
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Kim, Se-Min; Cui, Jinrui; Rhyu, Jane et al. (2018) Association between site-specific bone mineral density and glucose homeostasis and anthropometric traits in healthy men and women. Clin Endocrinol (Oxf) 88:848-855
Swan, Ryan; Kim, Sang Jin; Campbell, J Peter et al. (2018) The genetics of retinopathy of prematurity: a model for neovascular retinal disease. Ophthalmol Retina 2:949-962
Burkart, Kristin M; Sofer, Tamar; London, Stephanie J et al. (2018) A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos. Am J Respir Crit Care Med 198:208-219
Bielas, Jason; Herbst, Allen; Widjaja, Kevin et al. (2018) Long term rapamycin treatment improves mitochondrial DNA quality in aging mice. Exp Gerontol 106:125-131
Zhao, Peng; Wong, Kai In; Sun, Xiaoli et al. (2018) TBK1 at the Crossroads of Inflammation and Energy Homeostasis in Adipose Tissue. Cell 172:731-743.e12
Prokopenko, Dmitry; Sakornsakolpat, Phuwanat; Fier, Heide Loehlein et al. (2018) Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease. Am J Respir Cell Mol Biol 59:614-622
Raffield, Laura M; Ellis, Jaclyn; Olson, Nels C et al. (2018) Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. J Hum Genet 63:327-337
Tanphaichitr, Nongnuj; Kongmanas, Kessiri; Faull, Kym F et al. (2018) Properties, metabolism and roles of sulfogalactosylglycerolipid in male reproduction. Prog Lipid Res 72:18-41
Pappas, D J; Lizee, A; Paunic, V et al. (2018) Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest. Pharmacogenomics J 18:367-376
Cardamone, Maria Dafne; Tanasa, Bogdan; Cederquist, Carly T et al. (2018) Mitochondrial Retrograde Signaling in Mammals Is Mediated by the Transcriptional Cofactor GPS2 via Direct Mitochondria-to-Nucleus Translocation. Mol Cell 69:757-772.e7

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