CFH ELN基因多态性与PCV及隐匿性CNV的相关性

目的探讨补体因子H（CFH）Y402Hrs3753394基因多态性、弹性蛋白（ELN）rs2301995基因多态性与中国北方人群息肉状脉络膜血管病变（PCV）及隐匿性脉络膜新生血管膜（CNV）疾病的关系。方法选取PCV患者25例（PCV组）和隐匿性CNV患者22例（CNV组）及健康体检者23例（对照组）。采集所有受试者的外周血，提取DNA，通过聚合酶联（PCR）技术扩增后测序，检测CFH与ELN单核苷酸多态性，分析基因变异结果与PCV及隐匿性CNV疾病的相关性。结果PCV组和CNV组的CFHY402H基因SNPrs3753394位点的基因型及等位基因发生频率分别与对照组比较明显增高，差异有统计学意义（P〈0．05），PCV组的ELN基因SNPrs2301995位点TT基因型及T、C等位基因发生频率分别与对照组比较明显增高，差异有统计学意义（P〈0．05或0．01）。SNPrs2301995与PCV具有相关性，而与隐匿性CNV无相关性。结论中国北方人群CFHY402H基因SNPrs3753394位点与ELN基因SNPrs2301995住点基因分布频率的检测可作为PCV和隐匿性CNV疾病的鉴别诊断，并为这两种疾病的预防及治疗提供新的思路。

Objective To investigate the association of polymorphisms of CFH （ Y402H rs3753394 ） 、 ELNrs2301995 with PCV and occult CNV in a northern Chinese cohort. Methods The 25 cases of patients with PCV （ PCV group ） , 22 cases of patients with occult CNV group （ CNV group ） and 23 cases of normal persons from our physical examination center （ control group ） were selected, all of the subjects＇ peripheral blood DNA were collected to analyze the correlation between genetic variation results and the diseases with PCV and occult CNV by PCR amplification in detection to single nucleotide polymorphism of CFH and ELN. Results In PCV and CNV groups the genotype and allele frequency of SNP rs3753394 loci in CFH Y402H gene were significantly increased compared with controls, the differences were statistically significant （ P 〈 0.05 ） , in PCV group TT genotype and T, C allele frequency of SNP rs2301995 loci in ELN gene were significantly increased compared with controls, the difference was statistically significant （ P〈0.05 or 0.05 ） .Rs2301995 was associated with PCV, and no correlation with occult CNV. Conclution People in northern China CFH Y402H gene SNP rs3753394 loci and ELN SNP rs2301995 site distribution of gene frequency of testing can be as a PCV and occult CNV differential diagnosis of the disease, In northern Chinese population the different of distribution of gene frequency can be as a PCV and occult CNV differential diagnosis of the disease by detection of CFH Y402H gene SNP rs3753394 loci and SNPS rs2301995 ELN gene loci, providing new ideas of prevention and treatment for the two kinds of diseases.