International Union for Circumpolar Health Ministry of Public Health and Social Development of RF Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Medical Sciences Siberian Branch of Russian Academy of Sciences Medical Polar Fund “Science” The Northern Forum

Abstracts

Child health. Women`s health

Background: Cholestasis Familiaris Groenlandica is a severe variant of progressive familial intrahepatic cholestasis type 1 (Byler Disease). It carries an autosomal recessive trait, and the mutation has been located. The disease is relatively common among Inuit in Eastgreenland.

Aims: To assess the carrier frequency and the possible impact on health in populations in Eastgreenland.

Methods: Analyse the presence of the mutation on ATP8B1 at 18q21, measure bilirubin and (-glutamyl transpeptidase in serum, body height and weight, calculate body mass index (BMI), and do a physical examination in 324 50-69 years old Inuit and non-Inuit living in Ammassalik district in Eastgreenland in a population based study. Results: The participation rate was 96 %. None were homozygous and 12% of Inuit were heterozygous for the mutation. Harbouring the mutation did not influence height (p=0.26), weight (p=0.89), BMI (p=0.65), frequency of disease (p=0.17), or differ with gender (p=0.57). A marked geographical clustering was found (p=0.002) and heterozygocity for the mutation varied from 5 % in the southern to 23 % in the northern settlements where one out of 75 children may be calculated to have the disease. A physical investigation identified none with jaundice or signs of liver disease. Bilirubin and (-glutamyl transpeptidase in serum were lower among mutation positive Inuit compared to mutation negative.

Conclusions: Heterozygosity for Greenland Familial Cholestasis is common in Inuit in Eastgreenland but it is not a risk factor for disease in the carrier.

Note. Abstracts are published in author's edition

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Last update: 06-Jul-2012 (11:52:05)