Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus

Research output: Contribution to journalJournal articleResearchpeer-review

Gitte Andersen, Lise Wegner, Christian Schack Rose, Jianxin Xie, Hao Zhu, Kevin Larade, Anders Johansen, Jakob Ek, Jeannet Lauenborg, Thomas Drivsholm, Knut Borch-Johnsen, Peter Damm, Torben Hansen, H Franklin Bunn, Oluf Pedersen

Recent data show that homozygous Ncb5or(-/-) knock-out mice present with an early-onset nonautoimmune diabetes phenotype. Furthermore, genome-wide scans have reported linkage to the chromosome 6q14.2 region close to the human NCB5OR. We therefore considered NCB5OR to be a biological and positional candidate gene and examined the coding region of NCB5OR in 120 type 2 diabetic patients and 63 patients with maturity-onset diabetes of the young using denaturing high-performance liquid chromatography. We identified a total of 22 novel nucleotide variants. Three variants [IVS5+7del(CT), Gln187Arg, and His223Arg] were genotyped in a case-control design comprising 1,246 subjects (717 type 2 diabetic patients and 529 subjects with normal glucose tolerance). In addition, four rare variants were investigated for cosegregation with diabetes in multiplex type 2 diabetic families. The IVS5+7del(CT) variant was associated with common late-onset type 2 diabetes; however, we failed to relate this variant to any diabetes-related quantitative traits among the 529 control subjects. Thus, variation in the coding region of NCB5OR is not a major contributor in the pathogenesis of nonautoimmune diabetes.
Original languageEnglish
JournalDiabetes
Volume53
Issue number11
Pages (from-to)2992-7
Number of pages6
ISSN0012-1797
Publication statusPublished - 1 Nov 2004

    Research areas

  • Animals, Chromosome Mapping, Chromosomes, Human, Pair 6, Cytochrome-B(5) Reductase, Diabetes Mellitus, Type 2, Diabetes, Gestational, European Continental Ancestry Group, Female, Genetic Variation, Humans, Male, Mice, Mice, Knockout, Middle Aged, Pregnancy

ID: 33030427