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The KORA‐AGE Eye Study: Genetic Susceptibility
Author(s) -
GRAW J,
MOLNOS S,
HEIER M,
LINKOHR B,
BREIER M,
HOLLE R,
GRILL E,
GRALLERT H,
PETERS A
Publication year - 2014
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2014.1761.x
Subject(s) - cataracts , glaucoma , medicine , macular degeneration , ophthalmology , logistic regression , population , genetic predisposition , disease , environmental health
Purpose To estimate the genetic susceptibility of major age‐related eye diseases in a population‐based study in the region of Augsburg, Southern Germany (KORA). Methods 822 persons aged 68‐96 years from the KORA‐AGE study were asked in a follow up 2012 in a standardized interview for the presence of major eye disorders like cataracts, glaucoma and age‐related macula degeneration (AMD). In validated cases we investigated genetic susceptibility for major eye diseases by association with 31 functional candidate genes; association was calculated using logistic regression adjusted for age and gender. Results 465 persons reported any eye disorder (57%); 71% of them could be validated and specified. There were 68 cases of AMD and 72 cases of glaucoma; 90 % of glaucoma and 93% of AMD are overlapping with cataracts resulting in 182 pure cataracts and 117 cataracts with glaucoma and/or AMD. In a recessive model, only ARMS2 (age‐related maculopathy susceptibility gene 2) showed significant (p=0.0000175) association with AMD (OR 9.0; 95%‐CI 3.8 – 21.4). This gene is present only in humans and chimpanzees, but not in rodents. Additionally, CRYBA1 (encoding βA1‐crystallin) showed an increased risk for glaucoma (OR 5.8; 95%‐CI 1.7 – 20.5), however it is statistically not significant (p=0.144). These effects might be due to a relatively small sample size. Conclusion Age‐related eye diseases frequently do not occur in their “pure” form; cataracts overlap frequently with glaucoma and/or AMD. The association of AMD with ARMS2 strongly supports previous findings of ARMS2 as a major risk gene for AMD. This study was supported by the BMBF (FKZ 01ET1003A)