The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study
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The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility : the DAMAGE study. / van Hove, Els C; Hansen, Torben; Dekker, Jacqueline M; Reiling, Erwin; Nijpels, Giel; Jørgensen, Torben; Borch-Johnsen, Knut; Hamid, Yasmin H; Heine, Robert J; Pedersen, Oluf; Maassen, J Antonie; hart, Leen M.
I: Diabetes, Bind 55, Nr. 11, 2006, s. 3193-6.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility
T2 - the DAMAGE study
AU - van Hove, Els C
AU - Hansen, Torben
AU - Dekker, Jacqueline M
AU - Reiling, Erwin
AU - Nijpels, Giel
AU - Jørgensen, Torben
AU - Borch-Johnsen, Knut
AU - Hamid, Yasmin H
AU - Heine, Robert J
AU - Pedersen, Oluf
AU - Maassen, J Antonie
AU - hart, Leen M
PY - 2006
Y1 - 2006
N2 - The short-chain l-3-hydroxyacyl-CoA dehydrogenase (SCHAD) protein is involved in the penultimate step of mitochondrial fatty acid oxidation. Previously, it has been shown that mutations in the corresponding gene (HADHSC) are associated with hyperinsulinism in infancy. The presumed function of the SCHAD enzyme in glucose-stimulated insulin secretion led us to the hypothesis that common variants in HADHSC on chromosome 4q22-26 might be associated with development of type 2 diabetes. In this study, we have performed a large-scale association study in four different cohorts from the Netherlands and Denmark (n = 7,365). Direct sequencing of HADHSC cDNA and databank analysis identified four tagging single nucleotide polymorphisms (SNPs) including one missense variant (P86L). Neither the SNPs nor haplotypes investigated were associated with the disease, enzyme function, or any relevant quantitative measure (all P > 0.1). The present study provides no evidence that the specific HADHSC variants or haplotypes examined do influence susceptibility to develop type 2 diabetes. We conclude that it is unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts.
AB - The short-chain l-3-hydroxyacyl-CoA dehydrogenase (SCHAD) protein is involved in the penultimate step of mitochondrial fatty acid oxidation. Previously, it has been shown that mutations in the corresponding gene (HADHSC) are associated with hyperinsulinism in infancy. The presumed function of the SCHAD enzyme in glucose-stimulated insulin secretion led us to the hypothesis that common variants in HADHSC on chromosome 4q22-26 might be associated with development of type 2 diabetes. In this study, we have performed a large-scale association study in four different cohorts from the Netherlands and Denmark (n = 7,365). Direct sequencing of HADHSC cDNA and databank analysis identified four tagging single nucleotide polymorphisms (SNPs) including one missense variant (P86L). Neither the SNPs nor haplotypes investigated were associated with the disease, enzyme function, or any relevant quantitative measure (all P > 0.1). The present study provides no evidence that the specific HADHSC variants or haplotypes examined do influence susceptibility to develop type 2 diabetes. We conclude that it is unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts.
KW - 3-Hydroxyacyl CoA Dehydrogenases
KW - Body Mass Index
KW - Case-Control Studies
KW - Databases, Nucleic Acid
KW - Diabetes Mellitus, Type 2
KW - Female
KW - Genetic Predisposition to Disease
KW - Glucose Tolerance Test
KW - Hemoglobin A, Glycosylated
KW - Humans
KW - Hyperinsulinism
KW - Male
KW - Middle Aged
U2 - 10.2337/db06-0414
DO - 10.2337/db06-0414
M3 - Journal article
C2 - 17065362
VL - 55
SP - 3193
EP - 3196
JO - Diabetes
JF - Diabetes
SN - 0012-1797
IS - 11
ER -
ID: 38336412