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 language | English |
|---|---|
| Journal | Diabetes |
| Volume | 53 |
| Issue number | 11 |
| Pages (from-to) | 2992-7 |
| Number of pages | 6 |
| ISSN | 0012-1797 |
| Publication status | Published - 1 Nov 2004 |
Keywords
- 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
