Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion.
OBJECTIVE
Polymorphisms of the butyrylcholinesterase gene (BCHE) are reported to associate with Alzheimer's disease and a recent study found a significant association of the BCHE K variant (G1615A/Ala539Thr) with Type 2 diabetes. The objectives of our study were to examine whether the BCHE K variant is associated with Type 2 diabetes or estimates of pancreatic beta cell function in large-scale populations of glucose-tolerant Caucasians.


METHODS
The variant was genotyped in association studies comprising a total of 1408 Type 2 diabetic patients and 4935 glucose-tolerant control subjects. Genotype-phenotype studies were carried out in the 4935 glucose-tolerant control subjects.


RESULTS
There was no difference in allele frequency between Type 2 diabetic patients and control subjects (20.3% [95% confidence interval: 18.8-21.8] vs 20.4% [19.6-21.2], non-significant). In the genotype-phenotype studies we found no consistent association with BMI, fasting or post-OGTT plasma glucose, serum insulin or serum C-peptide levels.


CONCLUSIONS
The present study does not support the suggestion that the BCHE K polymorphism is associated with Type 2 diabetes or with estimates of pancreatic beta cell function in large-scale Danish Caucasian populations.
Johansen
A
A
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark. adjo@steno.dk
Nielsen
E-M D
EM
Andersen
G
G
Hamid
Y H
YH
Jensen
D P
DP
Glümer
C
C
Drivsholm
T
T
Borch-Johnsen
K
K
Jørgensen
T
T
Hansen
T
T
Pedersen
O
O
D019943:Amino Acid Substitution; D001483:Base Sequence; D001786:Blood Glucose / Q000378:metabolism; D002091:Butyrylcholinesterase / Q000235:genetics*; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000378:metabolism*; D000078790:Insulin Secretion; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values
D001786:Blood Glucose; D017931:DNA Primers; D007328:Insulin; D002091:Butyrylcholinesterase