Reference publication

Groop L, Forsblom C, Lehtovirta M, Tuomi T, Karanko S, Nissén M, Ehrnström BO, Forsén B, Isomaa B, Snickars B, Taskinen MR. Metabolic consequences of a family history of NIDDM (the Botnia study): evidence for sex-specific parental effects.
Diabetes. 1996 Nov;45(11):1585-93.

BOTNIA

The Botnia study was initiated in 1990 on the western coast of Finland in the Gulf of Bothnia with the aim to:

  1. Characterize the early metabolic defects in individuals at risk of developing type 2 diabetes
  2. Identify genetic variants predisposing to type 2 diabetes
  3. Study how the identified genetic markers and biomarkers can predict the development of type 2 diabetes and progression of the disease
  4. Identify means to prevent the development of type 2 diabetes.

The Ostrobothnia region was selected on the basis of:

  1. Botnia represents a homogenous Swedish-speaking population that shares a genetic background with Scandinavia and Finland
  2. A majority of family members were still living in the region and thus available for study
  3. It has a well-organized health care system that supported our plans
  4. We had previous positive experience of working with people in the region

In the Botnia study all individuals with known type 2 diabetes attending five health centers (Närpes, Malax-Korsnäs, Korsholm, Jakobstad and Vasa) were invited to participate. All type 2 diabetic patients who had at least two living first-degree relatives were invited to participate in further studies. All first-degree relatives of these patients, as well as a random subset of non-diabetic spouses, were invited.

Phenotype information

Medical history and including current and previous medication, information about other diseases (particularly hypertension, coronary heart disease, myocardial infarction and stroke), smoking habits and physical activity during work, on the way to work or during leisure time. A frequency-based questionnaire included questions about common dietary components. They were also asked whether they were positive for family history of diabetes (FH+). The subjects participated in OGTT with measurement of glucose, insulin and free fatty acids. Fasting blood samples were drawn for the measurement of glutamic acid decarboxylase (GAD) antibodies, total cholesterol, HDL and LDL cholesterol, triglyceride, apolipoproteins, hemoglobin, creatinine, etc.

Urine was collected either during the OGTT or overnight to measure the albumin excretion rate. In a subset of individuals, insulin secretion and sensitivity were assessed by the so-called Botnia clamp, which combines an IVGTT with a euglycemic- or hyperinsulinemic clamp. Indirect calorimetry was performed in some subjects to obtain estimates of substrate oxidation and energy expenditure.

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