Molecular and Clinical Profile of Diabetes Mellitus and Its Complications

2014-08-27 03:14:32 | BioPortfolio



- Family and twin studies have suggested that genetic factors influence approximately 50 percent of a person's susceptibility to type 2 diabetes. Recently, some of the genes involved in the development of type 2 diabetes have been identified, in large part by genome-wide association studies. Certain risk factors for type 2 diabetes, such as obesity and insulin resistance, are highly inheritable, as are diabetic complications such as diabetes-related eye and kidney disorders. However, few genes associated or linked with diabetes risk factors or complications have been conclusively identified, and more research is needed to study specific genetic factors associated with these aspects of diabetes.


- To identify and characterize genetic variants associated with type 2 diabetes, its risk factors, and its complications.


- Individuals at least 18 years of age who are not pregnant or nursing mothers at the start of the study.


- All participants will provide information about family history, ethnicity and ethnic background, occupation, behavioral risk factors, and other data as requested by the researchers.

- In addition to a general health history, participants will provide specific information about diabetes history, with particular emphasis on date of diagnosis, symptoms, initiation of insulin therapy, complications, and current medications.

- Testing procedures will be different for individuals with and without diabetes. Those without diabetes will have an oral glucose tolerance test, while those with diabetes will be examined for diabetic complications.

- Other tests during the study will include the following:

- Physical examination with measurements of height and weight, waist circumference, blood pressure, and other tests for individuals who have been diagnosed with diabetes

- Glucose tolerance test for those who have not been classified as having diabetes

- Retinal photographs

- Electrocardiograms

- Blood and urine tests

- Depending on the results of the examination and laboratory findings, participants may be asked to return to the clinic for supplemental interviews, physical examinations, or blood tests, or to arrange referrals for medical evaluation and treatment.

- Participants who have diabetes will be asked to return for yearly follow-up visits. Participants who do not have diabetes at the initial examination will be asked to return for follow-up visits every 2 years.


Genetic factors play an important role in diabetes mellitus, its risk factors and complications, but most of the specific genetic determinants remain unidentified. The molecular pathways by which diabetes-susceptibility genes influence risk for diabetes and related conditions are also largely unknown. This project will seek to identify, and quantify the effects of, the genetic determinants of type 2 diabetes, its risk factors and complications in a multiethnic sample. Diabetes and glycemic status will be assessed from clinical interviews, an oral glucose tolerance test and glycated hemoglobin. Insulin sensitivity and insulin secretion will be assessed from indices derived from the oral glucose tolerance test. Other potential risk factors for type 2 diabetes (e.g., obesity) and its complications (e.g., retinopathy, nephropathy) will be measured. DNA will be collected and analyzed to identify genetic variants associated with or linked to diabetes or other traits. Studies of gene transcription, protein expression and metabolic profiling will be performed, and the resulting patterns will be analyzed for their relationships with diabetes, related traits and variants in diabetes susceptibility genes. Individuals will be studied longitudinally to determine if gene transcription, protein expression and metabolic profiles predict development of diabetes or its complications. These studies will help to determine the molecular pathways between genetic variants and susceptibility to type 2 diabetes and its complications.

Study Design



Diabetes Mellitus, Type 2


NIDDK, Phoenix
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:14:32-0400

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Medical and Biotech [MESH] Definitions

A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.

The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2).

A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.

A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).

A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by excessive LIPOLYSIS, oxidation of FATTY ACIDS, production of KETONE BODIES, a sweet smell to the breath (KETOSIS;) DEHYDRATION; and depressed consciousness leading to COMA.

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