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

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

6 Citations (Scopus)

Abstract

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

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