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New risk factors for type 2 diabetes mellitus: heterozygosity for Glycogen Storage Disease Type IIIa and non-optimal carnitine level


Ulrike Steuerwald

Deildin fyri Arbeiðs- og Almannaheilsu

Aðrir luttakarar:
Jens Andreassen, Prof. David A. Weinstein, Prof. Nicola Longa, Debes H. Christiansen og Jónrit Halling


Samlaður kostnaður:

Stuðul úr Granskingargrunninum:

Incidence of type 2 diabetes mellitus (T2DM) is high in the Faroe Islands. Unhealthy diet, obesity and lack of exercise, generally accepted risk factors, contribute to the disease in some of the patients. Exposure to persistent organic pollutants like PCB and DDE e.g. by consumption of polluted marine food and insufficient vitamin D levels further add to the risk for T2DM in Faroese individuals. Two other factors might further increase the risk for developing T2DM: heterozygosity for glycogen storage disease type IIIa and insufficient carnitine levels. Both factors have genetic bases and are very common in Faroese.

We hypothesize that the risk to develop T2DM is higher in

- Carriers for glycogen storage disease type IIIa and
- Individuals with non-optimal blood carnitine levels.

To test this hypothesis we will compare three groups of individuals which were created in connection with the Faroese Diabetes Project. For this project, a total of 3,322 Faroese aged 40 to 79 years – including 276 persons previously diagnosed with T2DM – were examined intensely. This resulted in one group of 364 persons with confirmed T2DM. A second group of 350 persons had isolated impaired fasting glycemia (IFG) or IFG combined with impaired glucose tolerance (pre-diabetic). 309 persons with normal glucose tolerance which were matched by age and gender to the first group agreed to form a control group.

In all three groups, prevalence of carrier status for glycogen storage disease type IIIa and blood carnitine levels will be examined. Differences between groups will be tested for significance. Further models will be created to test effect of these proposed risk factors while using recorded health parameters (weight, height, waist and hip circumference and impedance measurement) as covariates.

This study will determine whether low carnitine levels or heterozygosity for glycogen storage disease IIIa are risk factors for T2DM in Faroese individuals. This risk could be reduced by carnitine supplementation (for those with lowered carnitine levels) and a single dose of cornstarch at bedtime (for GSD IIIa-carriers) in addition to standard preventive measures (weight reduction, exercise and a sufficient high dose of vitamin D).

850 probands from the Faroese Diabetes Study were tested for the common Faroese mutation causing – when present in homozygous status – glycogen storage disease (GSD) type IIIa. Further, carnitine levels in plasma were estimated to evaluated the influence of these two findings on risk for developing impaired glucose homeostasis. Heterozygosity for GSD IIIa was identified as a small additional risk factor for development of type 2 diabetes. Low carnitine levels did not show negative impact on glucose homeostasis.


Scientific articles, books, thesis etc.
Several papers are under preparation.

Other results, such as unpublished articles, patents, computer systems, original models and new procedures
First results will be presented at the 2022 annual meeting of the Association for pediatric metabolic disorders (Arbeitsgemeinschaft für pädiatrische Stoffwechselstörungen) in Kassel later this year.

Publications outside the scientific community, i.e. lectures, periodicals, articles in newspapers, television and radio

Presentation of results for Faroese newspaper are planned

Storage and access rights to collected data

Data files are stored at the Department of Occupational and Public Health. Head of the department (Pál Weihe) as well as Maria Skaalum Petersen have to right to share data after allowance of responsible authorities.

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