The Polymorphism rs2968 of <i>LSS</i> Gene Confers Susceptibility to Age-Related Cataract
Xi Zou, Hao Wang, Dong Zhou, Zhinan Liu, Yong Wang, Guohua Deng, Huaijin Guan
Abstract
Research showed that lanosterol can decrease protein aggregation in lens and reduce cataract formation. Lanosterol synthase (LSS) and 3-Hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) are the limiting enzymes in the process of synthesis of lanosterol. We demonstrate to investigate the association between functional single-nucleotide polymorphisms (SNPs) of LSS and HMGCR genes and age-related cataract (ARC) risks in Han Chinese population from Jiangsu Eye Study. This is a case–control study. We collected participants' venous blood for DNA genotyping and lens capsule samples for RNA. The SNPs of the genes were assayed with TaqMan RT-PCR genotyping. The quantitative RT-PCR was used to detect the LSS mRNA levels of lens epithelial cells (LECs) in individuals. The chi-square test was used to compare differences between ARC groups and controls of each SNP and to calculate the odds ratio (OR). We found that LSS-rs2968 of ARCs was different from controls (p = 0.018), but the significance was lost after Bonferroni correction (p = 0.072). We then further performed stratification analysis and found that LSS-rs2968 A allele was associated with nuclear type of ARC risk in Chinese population (p = 0.012, OR = 0.68). Consequently, we found that the mRNA expression of LSS was lower in LECs of all subtypes of ARC group than that of control group (p < 0.05). LSS-rs2968 A allele might play a role in the formation and development of nuclear type of ARC risk in Chinese population.