PRNP基因M129V多态性与假性剥脱综合征无关联。
Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome.
作者信息
Giannakopoulos Marios P, Antonacopoulou Anna G, Kottorou Anastasia E, Kalofonos Haralabos P, Gartaganis Sotirios P
机构信息
Department of Ophthalmology, School of Medicine, University of Patras, Rion, Greece.
Department of Medicine, Molecular Oncology Laboratory, Division of Oncology, University of Patras, Rion, Greece.
出版信息
Clin Ophthalmol. 2016 Apr 22;10:731-4. doi: 10.2147/OPTH.S92174. eCollection 2016.
PURPOSE
In this study we aimed to evaluate the polymorphism at codon 129 (M129V) of the PRNP gene as a secondary risk factor for pseudoexfoliation syndrome (PEX).
METHODS
Two hundred and seventy-five unrelated subjects, including 156 patients with PEX and 119 unrelated control subjects, were recruited from the University Hospital of Patras, Greece. All patients and controls were of Caucasian or European ancestry. The PRNP M129V (A/G) single-nucleotide polymorphism was genotyped by real-time polymerase chain reactions. Association of the polymorphism with PEX was assessed using the two-sided Pearson's chi-squared or Fisher's exact test.
RESULT
No significant difference between patients and controls was observed in terms of frequencies of alleles and genotypes of the PRNP gene.
CONCLUSION
Polymorphism at M129V of the PRNP gene was evaluated as a secondary risk factor for developing PEX. Our results suggest that this PRNP gene polymorphism is not associated with PEX.
目的
在本研究中，我们旨在评估朊蛋白基因（PRNP）第129密码子（M129V）处的多态性作为假性剥脱综合征（PEX）的次要危险因素。
方法
从希腊帕特雷大学医院招募了275名无血缘关系的受试者，包括156例PEX患者和119名无血缘关系的对照受试者。所有患者和对照均为白种人或欧洲血统。通过实时聚合酶链反应对PRNP M129V（A/G）单核苷酸多态性进行基因分型。使用双侧Pearson卡方检验或Fisher精确检验评估该多态性与PEX的关联。
结果
在PRNP基因的等位基因和基因型频率方面，患者与对照之间未观察到显著差异。
结论
评估了PRNP基因M129V处的多态性作为发生PEX的次要危险因素。我们的结果表明，这种PRNP基因多态性与PEX无关。
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