Biomedical subjects

J C Alcolado

Publications and source records attributed to J C Alcolado.

38 records · Page 3Linked to original sources

PubMedDate not supplied

Restriction fragment length polymorphisms at the GLUT4 and GLUT1 gene loci in type 2 diabetes.

Inherited abnormalities of the glucose transporters could explain many of the pathophysiological features of Type 2 diabetes including the strong familial predisposition to the disease. Previous studies have suggested a possible association between an allele of an Xba1 restriction fragment length polymorphism (RFLP) at the GLUT1 gene locus and Type 2 diabetes in Caucasian and Japanese subjects. In order to test this hypothesis further, population association studies were performed at the Xba1/GLUT1 and Kpn1/GLUT4 gene loci employing a group of diabetic patients with a strong family history for the disease. The frequencies of the two alleles at the GLUT1 locus were 0.28 and 0.72 in diabetic patients and 0.31 and 0.69 in control subjects. At the GLUT4 locus, the two alleles had frequencies of 0.24 and 0.76 in diabetic patients and 0.25 and 0.75 in control subjects. These differences were not statistically significant. The present study does not support the hypothesis that genetic variation within the GLUT1 or GLUT4 gene loci may be responsible for familial susceptibility to Type 2 diabetes.

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PubMedDate not supplied

Genetic variation around the collagen IV 1a gene locus and proliferative retinopathy in type 2 diabetes mellitus.

The development of proliferative retinopathy in type 2 diabetes mellitus may be under genetic control. A well-documented pathological change in the fundal capillaries of patients with diabetic retinopathy is basement membrane thickening, with an increased amount of collagen IV protein. Variation at the collagen 1a IV gene therefore may explain familial susceptibility to this complication. It has been previously reported that genetic variation at the collagen 1a locus, as shown by allelic association with a HindIII restriction site, predisposes to diabetic nephropathy where basement membrane thickening is also prevalent. In order to test the hypothesis that the collagen 1a IV gene locus is important in the development of diabetic retinopathy, a population association study was performed comparing allele frequencies of the HindIII RFLP in diabetic patients with retinopathy and controls. No statistically significant differences were found between allele frequencies or genotypes in the two groups. The future use of similar studies in diabetic retinopathy is discussed.

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