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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. / Andersen, Gitte; Wegner, Lise; Rose, Christian Schack; Xie, Jianxin; Zhu, Hao; Larade, Kevin; Johansen, Anders; Ek, Jakob; Lauenborg, Jeannet; Drivsholm, Thomas; Borch-Johnsen, Knut; Damm, Peter; Hansen, Torben; Bunn, H Franklin; Pedersen, Oluf.

In: Diabetes, Vol. 53, No. 11, 01.11.2004, p. 2992-7.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

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 2004, 'Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus', Diabetes, vol. 53, no. 11, pp. 2992-7.

APA

Andersen, G., Wegner, L., Rose, C. S., Xie, J., Zhu, H., Larade, K., Johansen, A., Ek, J., Lauenborg, J., Drivsholm, T., Borch-Johnsen, K., Damm, P., Hansen, T., Bunn, H. F., & Pedersen, O. (2004). Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. Diabetes, 53(11), 2992-7.

Vancouver

Andersen G, Wegner L, Rose CS, Xie J, Zhu H, Larade K et al. Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. Diabetes. 2004 Nov 1;53(11):2992-7.

Author

Andersen, Gitte ; Wegner, Lise ; Rose, Christian Schack ; Xie, Jianxin ; Zhu, Hao ; Larade, Kevin ; Johansen, Anders ; Ek, Jakob ; Lauenborg, Jeannet ; Drivsholm, Thomas ; Borch-Johnsen, Knut ; Damm, Peter ; Hansen, Torben ; Bunn, H Franklin ; Pedersen, Oluf. / Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. In: Diabetes. 2004 ; Vol. 53, No. 11. pp. 2992-7.

Bibtex

@article{0efa145842e54269b6d13bd37507c30f,
title = "Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus",
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.",
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",
author = "Gitte Andersen and Lise Wegner and Rose, {Christian Schack} and Jianxin Xie and Hao Zhu and Kevin Larade and Anders Johansen and Jakob Ek and Jeannet Lauenborg and Thomas Drivsholm and Knut Borch-Johnsen and Peter Damm and Torben Hansen and Bunn, {H Franklin} and Oluf Pedersen",
year = "2004",
month = nov,
day = "1",
language = "English",
volume = "53",
pages = "2992--7",
journal = "Diabetes",
issn = "0012-1797",
publisher = "American Diabetes Association",
number = "11",

}

RIS

TY - JOUR

T1 - Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus

AU - Andersen, Gitte

AU - Wegner, Lise

AU - Rose, Christian Schack

AU - Xie, Jianxin

AU - Zhu, Hao

AU - Larade, Kevin

AU - Johansen, Anders

AU - Ek, Jakob

AU - Lauenborg, Jeannet

AU - Drivsholm, Thomas

AU - Borch-Johnsen, Knut

AU - Damm, Peter

AU - Hansen, Torben

AU - Bunn, H Franklin

AU - Pedersen, Oluf

PY - 2004/11/1

Y1 - 2004/11/1

N2 - 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.

AB - 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.

KW - Animals

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 6

KW - Cytochrome-B(5) Reductase

KW - Diabetes Mellitus, Type 2

KW - Diabetes, Gestational

KW - European Continental Ancestry Group

KW - Female

KW - Genetic Variation

KW - Humans

KW - Male

KW - Mice

KW - Mice, Knockout

KW - Middle Aged

KW - Pregnancy

M3 - Journal article

C2 - 15504981

VL - 53

SP - 2992

EP - 2997

JO - Diabetes

JF - Diabetes

SN - 0012-1797

IS - 11

ER -

ID: 33030427