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Abstract #8210 Published in IGR 4-3

Family score as an indicator of genetic risk of primary open-angle glaucoma

Hulsman CAA; Houwing-Duistermaat JJ; Van Duijn CM; Wolfs R; Borger PH; Hofman A; de Jong PTVM
Archives of Ophthalmology 2002; 120: 1726-1731


OBJECTIVES: To assess the genetic risk of open-angle glaucoma (OAG) in individuals by calculating a family score (FS), which summarizes information on all relatives, including their disease status, age, sex, and degree of kinship, and to examine the genetic contribution to OAG with and without increased intraocular pressure (IOP). METHODS: Case and control probands, taken from the Rotterdam Study, underwent the same ophthalmological examination as their relatives. The FS of each proband was the sum of the differences between observed and expected values of OAG for all relatives. FSs were compared between case and control probands using logistic regression analysis, adjusted for IOP. RESULTS: Of 37 case probands, 44 (half-) siblings and 86 children were available, and of 83 control probands, there were 97 (half-) siblings and 155 children. Family scores ranged from -0.44 to 7.08 in case probands and from -0.98 to 2.46 in control probands. One unit increase in FS was significantly associated with a higher risk of OAG (odds ratio, 1.59; 95% confidence interval, 1.14-2.23). Adjustments for IOP did not change the odds ratio. CONCLUSIONS: These data show that FS strongly predicts OAG, independent of IOP. Therefore, FS is useful for identifying individuals at high genetic risk.

P.T.V.M. de Jong, MD, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 BA Amsterdam, the Netherlands. p.dejong@ioi.knaw.nl


Classification:

1.2 Population genetics (Part of: 1 General aspects)



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