LIPC基因多态性与脉络膜新生血管的关联性

Association between LIPC gene polymorphisms and choroidal neovascularization

目的探讨脉络膜新生血管(CNV)与LIPC基因单核苷酸多态性(SNP)位点rs10468017、rs920915和rs2070895的相关性。方法采用病例对照研究设计,纳入2010年1月至2016年12月于汕头国际眼科中心就诊的CNV患者221例作为CNV组,430名年龄、性别相匹配的健康志愿者作为正常对照组。抽取受试者空腹外周血各5 ml,抗凝后提取外周血DNA,对LIPC基因的SNP位点rs10468017、rs920915和rs2070895分别进行PCR扩增,纯化后使用单碱基延伸法(SNaPshot)对以上SNP位点进行基因分型。LIPC基因3个SNP位点的基因型频率采用Hardy-Weinberg平衡(HWE)检测;比较CNV组与正常对照组3个位点基因频率和基因型频率。结果LIPC基因3个SNP位点rs10468017、rs920915和rs2070895在总样本中的基因型频率分布均达到遗传平衡(P>0.05)。CNV组LIPC基因SNP位点rs10468017 TT基因型、rs920915 CC基因型和rs2070895 AA基因型的基因型频率分别为3.62%、5.43%和12.22%,正常对照组基因型频率分别为2.56%、5.58%和14.19%,差异均无统计学意义(均P>0.05);CNV组和正常对照组LIPC基因SNP位点rs10468017最小等位基因(T)频率分别为18.1%和17.2%,rs90915最小等位基因(C)频率分别为21.7%和23.1%,rs2070895最小等位基因(A)频率分别为33.7%和38.7%,差异均无统计学意义(均P>0.05)。CNV组和正常对照组LIPC基因3个SNP位点rs10468017、rs920915和rs2070895的优势比(OR)值[95%置信区间(CI)]分别为1.06(0.79~1.44)、0.92(0.70~1.21)和0.80(0.63~1.02)。结论本研究样本范围内未发现LIPC基因3个SNP位点rs10468017、rs920915和rs2070895与汕头地区汉族人群CNV的相关性。

Objective To investigate the association between choroidal neovascularization(CNV)and the LIPC gene single nucleotide polymorphism(SNP)in a Chinese Han population from Shantou.Methods A case-control study was designed.Two hundred and twenty-one patients with CNV who visited Shantou International Eye Center from January 2010 to December 2016 were enrolled and served as the CNV group,and 430 healthy volunteers matched in age and gender were enrolled and served as the normal control group.Each of 5 ml fasting peripheral blood of the subjects was extracted,and peripheral blood DNA was extracted after anticoagulation.PCR amplification was conducted on SNP loci of LIPC gene including rs10468017,rs920915 and rs2070895.After purification,genotyping was performed on the above SNP loci using the single base extension(SNaPshot)method.Hardy-weinberg equilibrium(HWE)test was used to determine the genotype frequency of the three SNPs of LIPC gene.The gene frequency and genotype frequency of the 3 loci between the CNV group and normal control group were compared.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort.The study protocol was approved by the Ethics Committee of Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong(No.11-004).Results The genotype frequency distribution of rs10468017,rs920915 and rs2070895 of the three SNPs of LIPC gene reached genetic balance in the total samples(P>0.05).The genotype frequencies of rs10468017 TT genotype,rs920915 CC genotype and rs2070895 AA genotype in CNV group were 3.62%,5.43%and 12.22%,respectively,while those of normal control group were 2.56%,5.58%and 14.19%,respectively,with no statistically significant difference(all at P>0.05).The minimum allele(T)frequency of rs10468017 was 18.1%and 17.2%,the minimum allele(C)frequency of rs920915 was 21.7%and 23.1%,and the minimum allele(A)frequency of rs2070895 was 33.7%and 38.7%in the CNV group and the normal control group,respectively(all at P>0.05).The odd ratio(OR)values(95%confidence interval[CI])of rs10468017,rs920915 and rs2070895 in the CNV group and the normal control group were 1.06(0.79-1.44),0.92(0.70-1.21)and 0.80(0.63-1.02),respectively.Conclusions The results from the present study do not indicate the association of LIPC SNPs(rsl0468017,rs920915 and rs2070895)with CNV in the Shantou Han population.