RGD Reference Report - An uncoupling protein 2 gene variant is associated with a raised body mass index but not Type II diabetes. - Rat Genome Database

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An uncoupling protein 2 gene variant is associated with a raised body mass index but not Type II diabetes.

Authors: Cassell, PG  Neverova, M  Janmohamed, S  Uwakwe, N  Qureshi, A  McCarthy, MI  Saker, PJ  Albon, L  Kopelman, P  Noonan, K  Easlick, J  Ramachandran, A  Snehalatha, C  Pecqueur, C  Ricquier, D  Warden, C  Hitman, GA 
Citation: Cassell PG, etal., Diabetologia. 1999 Jun;42(6):688-92.
RGD ID: 2313525
Pubmed: PMID:10382588   (View Abstract at PubMed)
DOI: DOI:10.1007/s001250051216   (Journal Full-text)

AIMS/HYPOTHESIS: Linkage between markers close to the uncoupling protein 2 and 3 genes (11q13) and resting metabolic rate and a pre-diabetic phenotype have been found. The syntenic region in mouse has been found to be linked to quantitative traits associated with obesity and diabetes. UCP2 and UCP3 could therefore have an important role in body weight regulation and susceptibility to diabetes. We investigated a recently identified variant of the UCP2 gene in exon 8 as a marker for glucose and weight homeostasis. METHODS: Length variation of the UCP2 exon 8 variant was studied by the polymerase chain reaction and agarose gel electrophoresis. Sequence variants of the UCP3 gene were sought by semi-automated DNA sequencing. RESULTS: In 453 South Indian subjects, we found an association in women between the UCP2 exon variant and body mass index (p = 0.018). These findings were replicated in a separate group of South Indian subjects (n = 143, p < 0.001) irrespective of sex. Although no association was found between the UCP2 exon 8 variant and overt obesity in British subjects, the UCP2 genotype of obese women (n = 83) correlated with fasting serum leptin concentration (p = 0.006) in the presence of extreme obesity. These observations could not be explained by tight linkage disequilibrium with a coding region variant in the region of the UCP3 gene of biological significance. Lastly, no association was found between UCP2 and Type II (non-insulin-dependent) diabetes using either a family based design (85 families) or case control study (normal glucose tolerance n = 335, impaired glucose tolerance n = 42, Type II diabetes n = 76). CONCLUSION/INTERPRETATION: We have described a UCP2 gene exon 8 variant that may affect susceptibility to weight gain by influencing regulation of leptin.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 2 diabetes mellitus no_associationIAGP 2313525DNA:polymorphism:exon (human)RGD 
type 2 diabetes mellitus no_associationISOUCP2 (Homo sapiens)2313525; 2313525DNA:polymorphism:exon (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ucp2  (uncoupling protein 2)

Genes (Mus musculus)
Ucp2  (uncoupling protein 2 (mitochondrial, proton carrier))

Genes (Homo sapiens)
UCP2  (uncoupling protein 2)


Additional Information