Heritability of Proliferative Diabetic Retinopathy

  1. Kustaa Hietala12,
  2. Carol Forsblom13,
  3. Paula Summanen2,
  4. Per-Henrik Groop13 and
  5. on behalf of the FinnDiane Study Group
  1. 1Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland
  2. 2Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland
  3. 3Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland
  1. Corresponding author: Per-Henrik Groop, per-henrik.groop{at}helsinki.fi


OBJECTIVE—Diabetic nephropathy clusters in families, suggesting that genetic factors play a role in its pathogenesis. We investigated whether similar clustering exists for proliferative retinopathy in families with two or more siblings with type 1 diabetes.

RESEARCH DESIGN AND METHODS—The FinnDiane Study has characterized 20% (4,800 patients) of adults with type 1 diabetes in Finland. In 188 families, there were at least two siblings with type 1 diabetes. Ophthalmic records were obtained for 369 of 396 (93%) and fundus photographs for 251 of 369 (68%) patients. Retinopathy was graded based on photographs and/or repeated ophthalmic examinations using the Early Treatment of Diabetic Retinopathy grading scale.

RESULTS—Mean age at onset of diabetes was 14.3 ± 10.2 years, and mean duration was 25.9 ± 11.8 years. Proliferative retinopathy was found in 115 of 369 patients (31%). The familial risk of proliferative retinopathy was estimated in 168 of 188 sibships, adjusted for A1C, duration, and mean blood pressure. Proliferative retinopathy in the probands (48 of 168) was associated with an increased risk (odds ratio 2.76 [95% CI 1.25- 6.11], P = 0.01) of proliferative retinopathy in the siblings of probands (61 of 182). The heritability of proliferative retinopathy was h2 = 0.52 ± 0.31 (P < 0.05).

CONCLUSIONS—We found a familial clustering of proliferative retinopathy in patients with type 1 diabetes. The observation cannot be accounted for by conventional risk factors, suggesting a genetic component in the pathogenesis of proliferative retinopathy in type 1 diabetes.


  • Published ahead of print at http://diabetes.diabetesjournals.org on 28 April 2008.

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    • Accepted April 22, 2008.
    • Received October 22, 2007.
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  1. Diabetes vol. 57 no. 8 2176-2180
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