Association between LIPC gene polymorphisms and choroidal neovascularization / 中华实验眼科杂志

ABSTRACT

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.