Authors: L M t Hart J M Dekker R J Heine J A Maassen
Publish Date: 2003/06/21
Volume: 46, Issue: 7, Pages: 1023-1024
Abstract
To the Editor Recently the gene responsible for the Alström syndrome has been identified 1 2 It was shown that mutations in this large gene encoding for a protein of 4169 amino acids associate with Alström syndrome cases Alström syndrome is an autosomal recessive disease characterized by retinitis pigmentosa Type 2 diabetes mellitus obesity and sensorineural deafness OMIM 203800 Furthermore patients frequently have cardiomyopathy insulin resistance and dyslipidaemia Since many of these features are also seen in Type 2 diabetes mellitus patients this gene is a potential candidate gene for Type 2 diabetic patients and associating comorbidities This led us to search for gene variants in the ALMS1 gene in Type 2 diabetes obesity and insulin resistanceAssociation studies were carried out with Type 2 diabetic patients n=188 and agematched normoglycaemic subjects n=167 randomly chosen from a populationbased study in the Netherlands 3 Glucose tolerance status was confirmed by OGTT in all subjects as described previously 3 All participants were between 50 and 75 years and of Caucasian origin to avoid bias Allele frequencies of gene variants in the ALMS1 gene were compared between Type 2 diabetic subjects and matched controls using Fischers exact tests ANOVA or linear regression analysis was carried out to test associations with other diabetes related parameters like BMI glucose and insulin concentrations A p value of 005 or less was considered statistically significant
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