Alternative titles; symbols
HGNC Approved Gene Symbol: MVCD7
Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38) : 6:25,200,001-27,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 6p22.2 | {Microvascular complications of diabetes, susceptibility to, 7} | 612635 | 2 |
For a discussion of genetic heterogeneity of susceptibility to microvascular complications of diabetes, see MVCD1 (603933).
Walsh and Malins (1978) reported an association between proliferative diabetic retinopathy and idiopathic hemochromatosis (HFE; 235200) on chromosome 6p21.3.
Peterlin et al. (2003) analyzed the HFE polymorphisms C282Y (613609.0001) and H63D (613609.0002) in 90 Caucasian patients with type 2 diabetes (125853) and proliferative diabetic retinopathy (PDR) and 133 diabetics without PDR. A significantly higher frequency of C282Y heterozygosity was found in patients with PDR compared to patients without it (odds ratio, 3.0; p = 0.02), whereas no association was demonstrated with H63D. Logistic regression analysis revealed that the C282Y mutation was a significant independent risk factor for the development of PDR (odds ratio = 6.1; p = 0.027).
Moczulski et al. (2001) analyzed the C282Y and H63D polymorphisms in 563 Polish patients with type 2 diabetes, including 108 with overt proteinuria, 154 with microalbuminuria, and 301 with normoalbuminuria, and 196 unrelated healthy controls. They observed an increased frequency of the 63D allele (odds ratio, 1.8; p = 0.0113) among patients with diabetic nephropathy.
Oliva et al. (2004) analyzed the C282Y and H63D HFE polymorphisms in 225 Spanish patients with type 2 diabetes and detected a younger age of onset and longer duration of disease in patients carrying at least 1 C282Y allele. They also found an increased prevalence of retinopathy (p = 0.014) and of nephropathy (p = 0.04) in individuals carrying at least 1 C282Y allele; the increased prevalence of retinopathy, but not nephropathy, in C282Y carriers was related to increased duration of disease. Multivariate logistic regression analysis confirmed that the prevalence of nephropathy was higher in the group of patients carrying at least 1 Y allele or the homozygous D/D genotype compared to wildtype or heterozygous D genotype.
Davis et al. (2008) analyzed HFE H63D and C282Y genotype data for 1,245 Australian patients with type 2 diabetes from the longitudinal observational Fremantle Diabetes Study and found no independent positive associations between HFE gene status and either microvascular or macrovascular complications in cross-sectional and longitudinal analyses.
Davis, T. M. E., Beilby, J., Davis, W. A., Olynyk, J. K., Jeffrey, G. P., Rossi, E., Boyder, C., Bruce, D. G. Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. Diabetes Care 31: 1795-1801, 2008. [PubMed: 18566337] [Full Text: https://doi.org/10.2337/dc08-0248]
Moczulski, D. K., Grzeszczak, W., Gawlik, B. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. Diabetes Care 24: 1187-1191, 2001. [PubMed: 11423500] [Full Text: https://doi.org/10.2337/diacare.24.7.1187]
Oliva, R., Novials, A., Sanchez, M., Villa, M., Ingelmo, M., Recasens, M., Ascaso, C., Bruguera, M., Gomis, R. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. Endocrine 24: 111-114, 2004. [PubMed: 15347835] [Full Text: https://doi.org/10.1385/ENDO:24:2:111]
Peterlin, B., Petrovic, M. G., Makuc, J., Hawlina, M., Petrovic, D. A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. J. Hum. Genet. 48: 646-649, 2003. [PubMed: 14618419] [Full Text: https://doi.org/10.1007/s10038-003-0094-3]
Walsh, C. H., Malins, J. M. Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. Brit. Med. J. 2: 16-17, 1978. [PubMed: 678784] [Full Text: https://doi.org/10.1136/bmj.2.6129.16-a]