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Abstract #13795 Published in IGR 8-2
Association of apolipoprotein E polymorphisms with normal tension glaucoma in a Chinese population
Lam CY; Fan BJ; Wang DY; Tam PO; Yung Tham CC; Leung DY; Ping Fan DS; Chiu Lam DS; Pang CPJournal of Glaucoma 2006; 15: 218-222
PURPOSE: To evaluate the role of apolipoprotein E (APOE) polymorphisms in primary open angle glaucoma (POAG). METHODS: A cohort of 400 unrelated Chinese POAG patients was examined, including 294 cases of high tension glaucoma (HTG) and 106 with normal tension glaucoma (NTG). Also studied were 300 unrelated Chinese control subjects. The genotypes of the APOE polymorphisms in exon 4 and in the promoter at positions -491, -427, and -219 were determined by polymerase chain reaction and restriction endonuclease analysis. Frequencies of the genotypes were compared between patients and controls by chi test or Fisher exact test. The association of APOE polymorphisms with POAG phenotypes including age at diagnosis, intraocular pressure (IOP) at diagnosis, highest IOP, cup-disc ratio, and visual field score was investigated by the Kruskal-Wallis test. RESULTS: No significant difference was detected in the frequencies of APOE promoter polymorphisms between POAG patients and control subjects (P > 0.0125). For the exon 4 polymorphism, when compared with control subjects, the frequency of varepsilon 4 carriers was significantly lower in patients with NTG (P = 0.008; odds ratio = 0.36, 95% confidence interval = 0.17, 0.79) but not in HTG (P = 0.07). Compared with -219TT, the -219G carriers had a significant higher age at diagnosis (P = 0.0046). No significant association was found between other APOE polymorphisms and POAG phenotypes (P > 0.07). CONCLUSIONS: Our findings suggest that the APOE varepsilon 4 allele confers a protective effect against NTG, whereas the APOE promoter polymorphisms do not contribute to POAG risk. However, the APOE -219G carriers tended to have later-onset POAG.
Dr. C.Y. Lam, Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
