Genetic polymorphisms at the human liver/islet glucose transporter (GLUT2) gene locus in Caucasian and West Indian subjects with type 2 (non-insulin-dependent) diabetes mellitus.
The liver/islet glucose transporter (GLUT2) is mainly expressed in the hepatocytes of the liver and the beta-cells of the pancreatic islets and a defect in this transporter could lead to diabetic phenotypes, such as relative hypoinsulinaemia and reduced uptake and metabolism of glucose in the liver. DNA from unrelated individuals was digested with the restriction endonucleases Bgl-I and Taq-I followed by blotting and hybridisation with a 32P-labelled GLUT2 cDNA which revealed three restriction fragment length polymorphisms (RFLPs) (B1, T1 and T2) in both Caucasian and West Indian populations. Linkage analysis between these variant sites demonstrated that the alleles of these polymorphisms were in strong linkage disequilibrium. Disease association of genetic variants at the GLUT2 locus with type 2 diabetes was examined with these RFLPs in both Caucasian (n = 54) and West Indian (n = 46) populations with type 2 diabetes. There were no significant differences in the frequency of alleles, genotypes or haplotypes between diabetic patients and non-diabetic controls. However, there were significant differences in the allele frequencies of all these three polymorphisms between Caucasian and West Indian populations.
Department of Human Genetics and Metabolism, St. Bartholomew's Hospital, London, U.K.
S R
SR
Li
J C
JC
Alcolado
J
J
Stocks
M G
MG
Baroni
R S
RS
Oelbaum
D J
DJ
Galton
D000368:Aged; D000483:Alleles; D015252:Deoxyribonucleases, Type II Site-Specific; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D005947:Glucose / Q000378:metabolism*; D006239:Haplotypes; D006801:Humans; D007515:Islets of Langerhans / Q000737:chemistry; D008099:Liver / Q000737:chemistry; D008131:London / Q000208:ethnology; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014900:West Indies / Q000208:ethnology; D044465:White People / Q000235:genetics
D009004:Monosaccharide Transport Proteins; D015252:Deoxyribonucleases, Type II Site-Specific; C018492:GCCNNNNNGGC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases; D005947:Glucose