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Diabetes Mellitus Type 2, Genetic Testing

Type 2 diabetes mellitus is a metabolic disorder characterized by insulin resistance and decreased insulin secretion. It often develops in adulthood, and lifestyle factors such as diet and physical activity play a critical role in managing it. Treatment may include oral medications, injectable therapies, and lifestyle modifications to control blood sugar levels. The assessment of the Polygenic Risk Score for type 2 diabetes mellitus is based on examining 514 gene polymorphisms.

Genetic testing for type 2 diabetes mellitus is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Type 2 diabetes is mainly the result of the appearance of resistance to insulin activity in muscle cells, adipocytes, and liver cells. These tissues present alterations in their interaction with insulin so that they cannot incorporate glucose into their interior, withdrawing it from the systemic circulation, thus increasing its levels in the blood. Additionally, the pancreas cannot increase insulin production to the extent necessary to control blood glucose.

The exact reasons for this are unknown. The existence of a genetic-hereditary component is known, but 80% of cases of type 2 diabetes are related to risk factors related mainly, but not exclusively, to lifestyle. Factors that may increase the risk of type 2 diabetes include:

  • Being overweight or obese is a major risk factor.
  • Inactivity. Physical activity allows weight control, allows the use of glucose for energy, and increases the sensitivity of cells to insulin.
  • Waist circumference. Fat storage primarily in the abdomen, rather than the hips and thighs, indicates increased risk.
  • Race and ethnicity. African Americans, Hispanics, Native Americans, Asians, and Pacific Islanders are more likely to develop type 2 diabetes than Caucasians.
  • Blood lipid levels. Elevated triglyceride levels and decreased HDL cholesterol levels increase the risk of this metabolic disorder.
  • Age. The risk increases with advancing age, especially after age 45.
  • Prediabetes or above-normal glucose levels without actually being diabetes.
  • Pregnancy-related risks. Gestational diabetes or newborn weight greater than 4 kilograms.
  • Polycystic ovary syndrome.

Traditionally this disease was associated with adults, however, due to its important relationship with lifestyle, it is now increasingly associated with children, adolescents and young adults. Symptoms often develop slowly and progressively and may go unnoticed for years until they have diabetes-related health problems. Up to 20% of people with this type of diabetes have signs of complications at the time of diagnosis. When they occur, they may include the following:

  • Increased thirst and hunger
  • Frequent urination
  • Unintentional and unexplained weight loss
  • Fatigue
  • Blurred vision
  • sores that are slow to heal
  • frequent infections
  • Numbness or tingling in the hands or feet
  • Darkened areas of skin, usually in the armpits and neck

When blood glucose levels are very high after advanced progression, severe dehydration can occur, which can lead to mental confusion, drowsiness, and seizures, a condition called hyperosmolar hyperglycemic state.


Healthy lifestyle choices can help prevent type 2 diabetes even if there is a family history. A healthy lifestyle includes:

  • Eating healthy, high-fiber, low-fat, low-calorie foods, preferably fruits, vegetables, or whole grains.
  • Exercise regularly and avoid long periods of inactivity by getting up and moving around for a few minutes every 30 minutes or every hour. If you want to lose weight, exercise should be more vigorous.
  • Losing and maintaining a healthy weight can slow the progression of type 2 diabetes.
  • Avoid smoking, as it increases the risk of cardiovascular disease, as well as alcohol and other substance abuse.

Several clinical studies show that moderate weight loss and a daily program of half an hour of physical exercise five days a week drastically reduce the risk of developing diabetes. Additionally, the risk is reduced, or the development of complications in many organs of long-term hyperglycemia is delayed. Such is the case of retinopathy on the ocular retina, nephropathy due to kidney damage, neuropathy due to central nervous system involvement, or vasculopathy that increases the risk of cardiovascular accidents, arteriosclerosis, or early heart disease.

The prevention of cardiovascular risk in diabetes is of particular relevance, for which it is additionally recommended to control the other cardiovascular risk factors, especially blood pressure (normal BP: 130/80 mmHg) and cholesterol (LDL < 100 mg/dL, HDL > 50 mg/dL and triglycerides < 150 mg/dL). Similarly, ongoing assessment of blood glucose levels is recommended to confirm that they are under adequate control by determining glycosylated hemoglobin (HbA1C), which provides long-term information, and fasting blood glucose (before meals, 75-106 mg/dl).

Additional information
Results Time4 - 5 Weeks
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