HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Online-Only Appendix Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Google Scholar Articles by Hietala, K. PubMed PubMed Citation Articles by Hietala, K. Social Bookmarking                What's this?

Heritability of proliferative diabetic retinopathy

Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Finland (KH, CF, P-HG); Department of Ophthalmology, Helsinki University Central Hospital, Finland (KH, PS); Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Finland (CF, P-HG)

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% (4800 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 369/396 (93%) and fundus photographs for 251/369 (68%) patients. Retinopathy was graded based on photographs and/or repeated ophthalmic examinations using the ETDRS-grading scale.

Results: Mean age at onset of diabetes was 14.3 (±10.2) years and mean duration 25.9 (±11.8) years. Proliferative retinopathy was found in 115/369 patients (31%). The familial risk of proliferative retinopathy was estimated in 168/188 sibships, adjusted for HbA_1c, duration and mean blood pressure. Proliferative retinopathy in the probands (48/168) was associated with an increased risk (Odds Ratio [OR] 2.76 [95% CI 1.25- 6.11], P=0.01) of proliferative retinopathy in the siblings of probands (61/182). 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.

CiteULike    Del.icio.us    Digg    Reddit    Technorati    What's this?