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    Diabetes. 2004 Nov;53(11):2992-7.

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

    Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K, Johansen A, Ek J, Lauenborg J, Drivsholm T, Borch-Johnsen K, Damm P, Hansen T, Bunn HF, Pedersen O.

    Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 2, NSH2.16, DK-2820 Gentofte, Denmark. gtta@steno.dk.

    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.

    PMID: 15504981 [PubMed - indexed for MEDLINE]

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