Nowak Alicja, Szaflik Jacek P, Gacek Mira, Przybylowska-Sygut Karolina, Kamińska Anna, Szaflik Jerzy, Majsterek Ireneusz
Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Poland.
Department of Ophthalmology II, Medical Faculty, Medical University of Warsaw, Poland.
Arch Med Sci. 2014 Dec 22;10(6):1206-13. doi: 10.5114/aoms.2014.45089. Epub 2014 Sep 5.
Glaucoma is a neurodegenerative disease that is often associated with high intraocular pressure (IOP). One of the effects of elevated IOP is disorder of neurotrophic molecules transport, including brain-derived neurotrophic factor (BDNF) and recruit specific cellular proteins called "heat shock proteins" (HSPs). The aim of this study was to evaluate a relationship between the BDNF and HSP70-1 gene polymorphisms with risk occurrence of primary open-angle glaucoma (POAG).
The study consisted of 167 patients with POAG (mean age: 73 ±9) and 193 healthy subjects (mean age: 64 ±13). Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP, using the following restriction enzymes: NlaIII (rs6265) and BsrBI (rs1043618). The Heidelberg retinal tomography (HRT) clinical parameters were also analyzed. The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.
Comparison of the distributions of genotypes and alleles of the 196G/A polymorphism of the BDNF gene as well as 190G/C polymorphism of the HSP70-1 gene and analysis of the odds ratio (OR) showed no statistically significant differences between POAG patients and controls (p > 0.05). However, there was a statistically significant association of the 196G/A of BDNF and 190G/C of HSP70-1 gene polymorphisms with progression of POAG depending on values of clinical parameters. 196G/A of BDNF correlated with the parameters GDx and RA (p = 0.03; p = 0.002, respectively), while 190G/C of HSP70-1 correlated with c/d and RA (p = 0.014, p = 0.024, respectively).
The BDNF 196G/A and HSP70-1 190G/C gene polymorphisms may be related to progression of POAG.
青光眼是一种常与高眼压（IOP）相关的神经退行性疾病。眼压升高的影响之一是神经营养分子运输紊乱，包括脑源性神经营养因子（BDNF），并招募特定的细胞蛋白，即“热休克蛋白”（HSPs）。本研究的目的是评估BDNF和HSP70 - 1基因多态性与原发性开角型青光眼（POAG）发病风险之间的关系。
该研究包括167例POAG患者（平均年龄：73±9岁）和193名健康受试者（平均年龄：64±13岁）。从外周血中提取基因组DNA。使用PCR - RFLP技术，采用以下限制性内切酶：NlaIII（rs6265）和BsrBI（rs1043618）对基因多态性进行分析。还分析了海德堡视网膜断层扫描（HRT）临床参数。计算每种基因型和等位基因的比值比（OR）和95%置信区间（CI）。
BDNF基因196G/A多态性以及HSP70 - 1基因190G/C多态性的基因型和等位基因分布比较，以及比值比（OR）分析显示，POAG患者与对照组之间无统计学显著差异（p>0.05）。然而，根据临床参数值，BDNF的196G/A和HSP70 - 1的190G/C基因多态性与POAG的进展存在统计学显著关联。BDNF的196G/A与参数GDx和RA相关（分别为p = 0.03；p = 0.002），而HSP70 - 1的190G/C与c/d和RA相关（分别为p = 0.014，p = 0.024）。
BDNF 196G/A和HSP70 - 1 190G/C基因多态性可能与POAG的进展有关。
