ARMD与转铁蛋白受体基因单核苷酸多态性相关性研究
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摘要
目的:探讨中国东北地区汉族人群中年龄相关性黄斑变性(ARMD)与转铁蛋白受体2(TFR2)基因单核苷酸多态性的相关性。方法:选取200例ARMD患者(干性100例,湿性100例)和100名健康志愿者(对照组),采集所有研究对象的外周静脉血并以EDTA抗凝处理,提取基因组DNA,根据相关文献提供的引物序列,扩增TFR2基因多态性位点rs2075674,进行聚合酶链式反应(PCR)。比较各组间的基因型频率,并按照Hardy-Weinberg平衡原理确定样本的群体代表性。结果:TFR2基因的多态性位点rs2075674 ARMD组与对照组比较有差异(χ~2=6.494,P=0.011);湿性ARMD组与对照组比较有差异(χ~2=11.054,P=0.001),而干性ARMD组与对照组无差异(χ~2=1.418,P=0.234)。结论:中国东北地区汉族人群中TFR2基因多态性rs2075674与ARMD具有相关性,且与湿性ARMD相关性较大。
?AIM: To develop the correlation of patients in age-related macular degeneration and TFR2 gene polymorphism in the Han people of northeast China.?METHODS: Totally 200 patients with ARMD(dry-ARMD 100 individuals and wet-ARMD 100 individuals) and 100 healthy control people were chosen as the experiment team and control team. Peripheral venous blood were collected and anticoagulated dealed with EDTA. Then we extraced genome DNA and amplificate rs2075674, which was the polymorphic locus of TFR2 gene according to the primer sequences provided by references, for polymerase chain reaction(PCR). The group representativeness of samples is identified according to hardy Weinberg equilibrium principle. ?RESULTS: We found that the difference between ARMD group and control group in the polymorphism of TFR2 gene rs2075674 is statistically significant(χ~2=6.494, P=0.011). There was significant difference between the wet ARMD group and control group(χ~2=11.054, P=0.001). There had no significant differences when it comes to the dry ARMD group and the control group(χ~2=1.418, P=0.234).?CONCLUSION: The above findings indicate that polymorphism of TFR2 gene increases the risk of ARMD in the Han population of Northeast China. It is concluded that rs2075674 is significantly correlated with wet-ARMD.
?AIM: To develop the correlation of patients in age-related macular degeneration and TFR2 gene polymorphism in the Han people of northeast China.?METHODS: Totally 200 patients with ARMD(dry-ARMD 100 individuals and wet-ARMD 100 individuals) and 100 healthy control people were chosen as the experiment team and control team. Peripheral venous blood were collected and anticoagulated dealed with EDTA. Then we extraced genome DNA and amplificate rs2075674, which was the polymorphic locus of TFR2 gene according to the primer sequences provided by references, for polymerase chain reaction(PCR). The group representativeness of samples is identified according to hardy Weinberg equilibrium principle. ?RESULTS: We found that the difference between ARMD group and control group in the polymorphism of TFR2 gene rs2075674 is statistically significant(χ~2=6.494, P=0.011). There was significant difference between the wet ARMD group and control group(χ~2=11.054, P=0.001). There had no significant differences when it comes to the dry ARMD group and the control group(χ~2=1.418, P=0.234).?CONCLUSION: The above findings indicate that polymorphism of TFR2 gene increases the risk of ARMD in the Han population of Northeast China. It is concluded that rs2075674 is significantly correlated with wet-ARMD.
引文
1 Pennington KL,DeAngelis MM.Epidemiology of age-related macular degeneration (AMD):associations with cardiovascular disease phenotypes and lipid factors.Eye Vis (Lond) 2016;3:34
2 Donoso LA,Kim D,Frost A,et al.The role of inflammation in the pathogenesis of age-related macular degeneration.Surv Ophthalmol 2006;51(2):137-152
3 Ambreen F,Ismail M,Qureshi LZ,et al.Association of gene polymorphism with serum levels of inflammatory and angiogenic factors in Pakistani patients with age-related macular degeneration.Mol Vis 2015;21:985-999
4 Cascella R,Ragazzo M,Strafella C,et al.Age-related macular degenerations:insights into inflammatory genes.J Ophthamol 2014;2014:582842
5 DeAngelis MM,Silveira AC,Carret EA,et al.Genetics of Age-Related Macular Degeneration:Current Concepts,Future Directions.Semin Ophthalmol 2011;26(3):77-93
6 Yildirim Z,Ucqun NI,Yildirim F.The role of oxidative stress in the pathogenesis of age-related macular degeneration.Clinics(Sao Paulo) 2011;66(5):743-746
7 Decanini A,Nordgaard CL,Feng X,et al.Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration.Am J Ophthalmol 2007;143(4):607-615
8 Mullins RF,Russell SR,Anderson DH,et al.Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis,elastosis,amyloidosis,and dense deposit disease.FASEB J 2000;14(7):835-846
9 María LF,Germán OL.Relationship between Oxidative Stress,Circadian Rhythms,and AMD.Oxid Med Cell Longev 2016;2016:7420637
10 Mitter SK,Rao HV,Qi X,et al.Autophagy in the retina:a potential role in age-related macular degeneration in Retinal Degenerative Diseases.Adv Exp Med Biol 2012;723:83-90
11 Imamura T,Hirayama T,Tsuruma K,et al.Hydroxyl radicals cause fluctuation in intracellular ferrous ion levels upon light exposure during photoreceptor cell death.Exp Eye Res 2014;129:24-30
12 Daniel W,Katarzyna D,Elzbieta P,et al.Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration.Biochimic Polonica 2015;62(2):177-184
2 Donoso LA,Kim D,Frost A,et al.The role of inflammation in the pathogenesis of age-related macular degeneration.Surv Ophthalmol 2006;51(2):137-152
3 Ambreen F,Ismail M,Qureshi LZ,et al.Association of gene polymorphism with serum levels of inflammatory and angiogenic factors in Pakistani patients with age-related macular degeneration.Mol Vis 2015;21:985-999
4 Cascella R,Ragazzo M,Strafella C,et al.Age-related macular degenerations:insights into inflammatory genes.J Ophthamol 2014;2014:582842
5 DeAngelis MM,Silveira AC,Carret EA,et al.Genetics of Age-Related Macular Degeneration:Current Concepts,Future Directions.Semin Ophthalmol 2011;26(3):77-93
6 Yildirim Z,Ucqun NI,Yildirim F.The role of oxidative stress in the pathogenesis of age-related macular degeneration.Clinics(Sao Paulo) 2011;66(5):743-746
7 Decanini A,Nordgaard CL,Feng X,et al.Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration.Am J Ophthalmol 2007;143(4):607-615
8 Mullins RF,Russell SR,Anderson DH,et al.Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis,elastosis,amyloidosis,and dense deposit disease.FASEB J 2000;14(7):835-846
9 María LF,Germán OL.Relationship between Oxidative Stress,Circadian Rhythms,and AMD.Oxid Med Cell Longev 2016;2016:7420637
10 Mitter SK,Rao HV,Qi X,et al.Autophagy in the retina:a potential role in age-related macular degeneration in Retinal Degenerative Diseases.Adv Exp Med Biol 2012;723:83-90
11 Imamura T,Hirayama T,Tsuruma K,et al.Hydroxyl radicals cause fluctuation in intracellular ferrous ion levels upon light exposure during photoreceptor cell death.Exp Eye Res 2014;129:24-30
12 Daniel W,Katarzyna D,Elzbieta P,et al.Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration.Biochimic Polonica 2015;62(2):177-184