RGD Reference Report - Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications. - Rat Genome Database

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Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications.

Authors: Colli, ML  Gross, JL  Canani, LH 
Citation: Colli ML, etal., J Diabetes Complications. 2011 Jan-Feb;25(1):25-30. doi: 10.1016/j.jdiacomp.2009.12.002. Epub 2010 Jan 25.
RGD ID: 8694381
Pubmed: PMID:20097100   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jdiacomp.2009.12.002   (Journal Full-text)

PURPOSE: To evaluate the frequency of mutations in the HFE gene (C282Y and H63D) in type 2 diabetes mellitus (DM) patients and their possible association with diabetic chronic complications. METHODS: A case-control study with 723 subjects was performed. All diabetic subjects (n=519) underwent a clinical and laboratory evaluation. Diabetic retinopathy (DR) was evaluated by an ophthalmologist. Diabetic nephropathy (DN) was categorized by urinary albumin excretion (UAE) as normoalbuminuria (n=247), microalbuminuria (n=68), macroalbuminuria (n=70), or the presence of end-stage renal disease (dialysis; n=134). Data available for blood donors (n=204) were limited to age, sex, body mass index, and absence of previous diagnosis of diabetes and normal fasting plasma glucose. The mutations C282Y and H63D in the HFE gene were genotyped based on PCR protocols and digested with the restriction enzymes SnabI (C282Y) and MboI (H63D). RESULTS: There was an association of type 2 DM with H63D polymorphism (genotypes HD/DD: OR=1.7, 95% CI=1.2-2.6), but not with C282Y polymorphism (OR=0.7, 955 CI=0.4-1.4). In respect to the chronic complications, there was no difference in the prevalence of DR, DN, or ischemic heart disease among the different genotypes. CONCLUSIONS: Mutation H63D in the HFE gene was associated with a higher risk of type 2 DM, but did not appear to confer risk for diabetic chronic complications. The mutation C282Y was not associated with diabetes or its chronic complications.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 2 diabetes mellitus susceptibilityIAGP 8694381DNA:missense mutation:cds:p.H63D (human)RGD 
type 2 diabetes mellitus susceptibilityISOHFE (Homo sapiens)8694381; 8694381DNA:missense mutation:cds:p.H63D (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hyperglycemia susceptibilityIAGP 8694381DNA:missense mutation:cds:p.H63DRGD 
Objects Annotated

Genes (Rattus norvegicus)
Hfe  (homeostatic iron regulator)

Genes (Mus musculus)
Hfe  (homeostatic iron regulator)

Genes (Homo sapiens)
HFE  (homeostatic iron regulator)


Additional Information