RGD Reference Report - Positional candidate gene analysis of Lim domain homeobox gene (Isl-1) on chromosome 5q11-q13 in a French morbidly obese population suggests indication for association with type 2 diabetes. - Rat Genome Database

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Positional candidate gene analysis of Lim domain homeobox gene (Isl-1) on chromosome 5q11-q13 in a French morbidly obese population suggests indication for association with type 2 diabetes.

Authors: Barat-Houari, M  Clement, K  Vatin, V  Dina, C  Bonhomme, G  Vasseur, F  Guy-Grand, B  Froguel, P 
Citation: Barat-Houari M, etal., Diabetes. 2002 May;51(5):1640-3.
RGD ID: 2311117
Pubmed: PMID:11978668   (View Abstract at PubMed)

The Lim domain homeobox gene (Isl-1) is a positional candidate gene for obesity that maps on chromosome 5q11-q13, a locus linked to BMI and leptin levels in French Caucasians. Isl-1 might be involved in body weight regulation and glucose homeostasis via the activation of proglucagon gene expression, which encodes for glucagon and glucagon-like peptides. By mutation screening of 72 obese subjects, we identified three single-nucleotide polymorphisms (SNPs) in the Isl1 gene. The allele frequencies in the morbidly obese group did not differ from that of the control group. In the obese group, the -47G allele was associated with a decreased risk of type 2 diabetes (odds ratio 0.41, P = 0.019). The AG bearers displayed a higher maximal BMI than the AA bearers in the whole obese group (P = 0.026) as well as in the type 2 diabetic obese subgroup (P = 0.014). In obese families, this allele was not preferentially transmitted from heterozygous parents to their obese siblings, indicating that Isl-1 does not contribute to the linkage with obesity on 5cen-q. However, in French Caucasian morbidly obese subjects, the Isl1-47A-->G SNP may modulate the risk for type 2 diabetes and may increase body weight in diabetic morbidly obese subjects.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ISL1Humantype 2 diabetes mellitus  IAGP associated with Obesity and DNA:SNP:promoter:g.-47A>G (human)RGD 
Isl1Rattype 2 diabetes mellitus  ISOISL1 (Homo sapiens)associated with Obesity and DNA:SNP:promoter:g.-47A>G (human)RGD 
Isl1Mousetype 2 diabetes mellitus  ISOISL1 (Homo sapiens)associated with Obesity and DNA:SNP:promoter:g.-47A>G (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Isl1  (ISL LIM homeobox 1)

Genes (Mus musculus)
Isl1  (ISL1 transcription factor, LIM/homeodomain)

Genes (Homo sapiens)
ISL1  (ISL LIM homeobox 1)


Additional Information