aetiology of diabetic nephropathy

Last edited 06/2021 and last reviewed 10/2023

Whilst various factors such as blood pressure and blood sugar may play a role in the development of diabetic nephropathy, it seems likely that there is a significant genetic influence to its development.

• initial evidence for diabetic retinopathy (DR) heritability came from twin studies
  • concordance rates for the presence and severity of DR was higher in monozygotic than in the dizygotic twins (1)
  • there is a higher concordance of DR in T2D monozygotic twins (95%) than in T1D monozygotic twins (68%), suggesting that in T1D the initiation and development of its complications are less dependent on genetic factors than in T2D (2)
• heritability has been estimated to be as high as 27% for DR and 52% for proliferative diabetic retinopathy (PDR), a more advanced form of the disease (3,4)

Reference:

• Pyke DA, Tattersall RB. Diabetic retinopathy in identical twins. Diabetes. 1973;22(8):613-618
• Leslie RD, Pyke DA. Diabetic retinopathy in identical twins. Diabetes. 1982;31(1):19-21.
• Hietala K, Forsblom C, Summanen P, Groop PH. Heritability of proliferative diabetic retinopathy. Diabetes. 2008;57(8):2176-2180
• Looker HC, Nelson RG, Chew E, Klein R, Klein BE, Knowler WC, Hanson RL. Genome-wide linkage analyses to identify Loci for diabetic retinopathy. Diabetes. 2007;56(4):1160-1166