中原地区人群中双眼湿性AMD与CFH Y402H的相关性研究

The association of complement factor H SNP Y402H with bilateral wet age-related macular degeneration in the central China

目的研究中原地区人群中补体因子H(CFH)单核苷酸多态性(SNP)Y402H与双眼湿性年龄相关性黄斑变性(AMD)的相关性。方法对双眼湿性AMD组30例及年龄、性别与之匹配的正常对照组30例,抽取外周静脉血5mL,提取白细胞内基因组DNA,进一步行PCR扩增并测序,检测CFH外显子9片段上的TT/TC/CC基因类型。结果A MD组和对照组的平均年龄分别为(67.47±10.8)与(61.5±10.5)岁(P>0.05)。CFH的Y402H位于染色体的1q31片段的194925860位。AMD组的基因型为TT87%、TC10%、CC3%,对照组的基因型为TT93%、TC7%、CC0%。等位基因T及C的出现率AMD组分别为92%、8%,对照组分别为97%、3%,差异无统计学意义(χ2=0.607,P>0.05)。结论中原人群中CFH的SNP Y402H与双眼湿性AMD的发病率无明显的相关性。

Objective At present,many researchers found that age-related maeular degeneration（AMD） was significantly associated with single nucleotide polymorphism（SNP） Y402H in complement factor H （CFH）. To determine whether AMD is associated with the CFH single nucleotide polymorphism Y402H in central China is of great importance. The purpose of this study was to determine whether the SNP Y402H of CFH is associated with bilateral and wet AMD in the population of the central China. Methods Thirty patients aged over 50 years AMD in Affiliated First Hospital of Zhengzhou University from April to August, 2007 was recruited in this study. Genomic DNA was collected from white blood cell of peripheral blood in these 30 patients. Thirty matched normal individuals were used as controls. TT/TC/CC genetype was detected by polymerase chain reaction and then sequenced for CFH gene polymorphysim in 30 patients and 30 controls. Results There was no significant difference in age （61.5 ±10.5 years）,genda,gene type（TT87%,TC10%,CC3%） between AMD group and the controls （67.47± 10.8 years, TT93%,TC7%,CC0,T 97%,C3%） （tege=1.8 ,X^2genda =0. 8,X^2gene= 0.607,P 〉0.05）.The frequences of allele in AMD group were T 92% and C 8% and those of control group were 97% and 3% without significant differnces between two groups （P 〉0.05）. Conclusion The CFH gene single nucleotide polymorphysim Y402H is not associated with bilateral and wet AMD in the population of central China.