Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 6q25.3 | {Microvascular complications of diabetes 6} | 612634 | 3 | SOD2 | 147460 |
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-6 (MVCD6) is associated with variation in the SOD2 gene (147460) on chromosome 6q25.
For a discussion of genetic heterogeneity of susceptibility to microvascular complications of diabetes, see MVCD1 (603933).
Among Japanese patients with type 2 diabetes (125853), Nomiyama et al. (2003) found a significantly higher frequency of the SOD2-VV genotype (147460.0001) than the AA or VA genotypes in patients with diabetic nephropathy (odds ratio, 0.46; p = 0.03). They concluded that the A16V polymorphism may be unrelated to the etiology of type 2 diabetes, but is associated with diabetic nephropathy in Japanese patients with type 2 diabetes.
Mollsten et al. (2007) analyzed the SOD2 A16V polymorphism (rs4880) in 1,510 Finnish and Swedish patients with type 1 diabetes (222100), including 619 patients with overt diabetic nephropathy (albumin excretion rate greater than 200 micrograms/min) or renal replacement therapy, 336 with 'incipient' diabetic nephropathy (albumin excretion rate of 20-200 micrograms/min), and 555 controls, who had diabetes duration greater than 20 years without albuminuria or antihypertensive treatment. After controlling for age at onset, diabetes duration, hemoglobin A1C, smoking, and gender, the VV genotype was associated with an increase in the risk of diabetic nephropathy (odds ratio, 1.32; p = 0.049). Logistic regression analysis showed that the high-risk group, VV patients who had ever smoked, had a 2.52-fold increased risk for diabetic nephropathy compared to the low-risk group, supporting the hypothesis that oxidative stress contributes to the development of diabetic nephropathy.
Mollsten, A., Marklund, S. L., Wessman, M., Svensson, M., Forsblom, C., Parkkonen, M., Brismar, K., Groop, P.-H., Dahlquist, G. A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy. Diabetes 56: 265-269, 2007. [PubMed: 17192491] [Full Text: https://doi.org/10.2337/db06-0698]
Nomiyama, T., Tanaka, Y., Piao, L., Nagasaka, K., Sakai, K., Ogihara, T., Nakajima, K., Watada, H., Kawamori, R. The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients. J. Hum. Genet. 48: 138-141, 2003. [PubMed: 12624725] [Full Text: https://doi.org/10.1007/s100380300021]