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土耳其人群中载脂蛋白E - 219T>G启动子多态性与原发性开角型青光眼的关联

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.

作者信息

Saglar Emel, Bozkurt Banu, Irkec Murat

机构信息

Department of Molecular Biology, Faculty of Science, Hacettepe University, Ankara 06800, Turkey.

Department of Ophthalmology, Selcuk University Faculty of Medicine, Konya 42131, Turkey.

出版信息

Int J Ophthalmol. 2014 Jun 18;7(3):426-30. doi: 10.3980/j.issn.2222-3959.2014.03.07. eCollection 2014.

DOI:10.3980/j.issn.2222-3959.2014.03.07
PMID:24967185
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4067653/
Abstract

AIM

To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).

METHODS

Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.

RESULTS

Although the frequency of APOE -219 GG genotype was higher in POAG group (13.3%) than in control group (6.6%), this finding was not statistically significant (P=0.09). In glaucoma patients carrying GG genotype, mean linear C/D ratio was higher and progression was more compared to glaucoma patients with GT genotype.

CONCLUSION

APOE -219 T>G polymorphism does not seem to be a risk factor for the presence of glaucoma, but might play a role in deterioration of the disease, which needs further evaluation.

摘要

目的

研究载脂蛋白E(APOE)-219 T>G启动子多态性与原发性开角型青光眼(POAG)之间的关联。

方法

采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对患者和健康受试者进行基因分型。使用卡方检验比较122名健康受试者和75名POAG患者的基因型/等位基因频率。

结果

虽然POAG组中APOE -219 GG基因型的频率(13.3%)高于对照组(6.6%),但这一发现无统计学意义(P=0.09)。与携带GT基因型的青光眼患者相比,携带GG基因型的青光眼患者平均线性杯盘比更高,病情进展更多。

结论

APOE -219 T>G多态性似乎不是青光眼发病的危险因素,但可能在疾病恶化中起作用,这需要进一步评估。