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Abstract #23530 Published in IGR 11-2
Apolipoprotein E polymorphisms and primary glaucoma in Saudis
Al-Dabbagh NM; Al-Dohayan N; Arfin M; Tariq MMolecular Vision 2009; 15:- 912-919
PURPOSE: The frequencies of apolipoprotein E (APOE) alleles and genotypes were examined in 230 Saudi subjects including primary open-angle glaucoma (POAG; n=60) and primary angle-closure glaucoma (PACG; n=40) patients as well as 130 control subjects. METHODS: The presence of glaucoma in patients was based on clinical examination and/or ophthalmic records. The APOE allele frequency (ε2, ε3, and ε4) was studied by polymerase chain reaction (PCR) followed by reverse-hybridization and restriction fragment length polymorphism techniques. RESULTS: Analysis of data showed a complete absence of ε2 allele and a significantly lower frequency of the ε3 allele in primary glaucoma patients (90.5%) compared to the control subjects (95.7%, p=0.034, relative risk [RR]=0.473, protective fraction [PF]=0.318). The frequency of the ε4 allele was significantly higher in the glaucoma patients (9.5%) compared to the control subjects (4.2%, p=0.034, RR=2.169, etiological fraction [EF]=0.329). The ε3/ε3 genotype was more common in controls than patients (p=0.060, RR=0.465, PF=0.322). The difference in genotype (ε3/ε4) was not statistically significant between the two groups (p=0.283). Genotype ε4/ε4 was found only in 3% of patients while being completely absent in the controls (p=0.080). The genotypes, ε2/ε2, ε2/ε3, and ε2/ε4, were absent in both the test and control groups. When patients were divided on the basis of types of glaucoma, POAG patients had a significantly higher frequency of ε4 allele and ε4/ ε4 genotype than controls whereas there was no significant difference between PACG patient and control groups in frequencies of APOE alleles and genotypes. CONCLUSIONS: This study indicates that the ε4 allele may be associated with POAG and could be a risk factor while ε3 may be protective for POAG, and APOE polymorphisms may not be associated at all with PACG in Saudis.
M. Tariq. Research Center, Armed Forces Hospital, P.O. Box 7897 (W 912), Riyadh 11159, Saudi Arabia. rkhres@yahoo.com
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)