Genetics
CETP variant rs3764261 is linked to reduced risk of advanced age-related macular degeneration in a Chinese population (Ophthalmic Genet 2015)
Original title: CETP Gene may be Associated with Advanced Age-Related Macular Degeneration in the Chinese Population
This study investigated whether variations in four HDL-metabolism genes, LIPC, CETP, ABCA1, and LPL, alongside CFH and HTRA1, are associated with advanced age-related macular degeneration (AMD) in 119 Chinese patients and 99 controls, genotyping seven SNPs by PCR-based methods and performing logistic regression to build a risk predictive model. The frequency of the CETP rs3764261 A allele was significantly lower in advanced AMD patients after Bonferroni correction (15.5% in AMD versus 20.7% in controls, OR=0.49, 95% CI 0.29-0.85, p=0.011), and was also associated with reduced risk of both unilateral AMD (OR=0.52, 95% CI 0.28-0.98, p=0.043) and bilateral AMD (OR=0.45, 95% CI 0.22-0.91, p=0.026). LIPC rs10468017, LPL rs12678919, and ABCA1 rs1883025 were not associated with advanced AMD (all p greater than 0.05). The authors conclude the CETP rs3764261 A allele may be associated with decreased advanced AMD risk in this Chinese population.
Original abstract
Objectives: This study aims to investigate whether variations in LIPC, CETP, ABCA1 and LPL, which are involved in high-density lipoprotein (HDL) metabolism, are associated with advanced age-related macular degeneration (AMD) in the Chinese population.
Design And Methods: A total of 119 Chinese patients with advanced AMD and 99 control individuals were recruited. Genomic DNA was extracted from peripheral blood leukocytes. Genotypes of seven single nucleotide polymorphisms (SNPs) including rs1061170 and rs1410996 in CFH, rs10490924 in HTRA1, rs10468017 in LIPC, rs3764261 in CETP, rs1883025 in ABCA1 and rs12678919 near LPL were determined by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion or SNaPshot. Unconditional logistic regression analyses were performed to generate a risk predictive model.
Results: We observed the frequency of allele A of rs3764261 in CETP to be significantly lower in advanced AMD after Bonferroni correction (15.5% in patients with AMD and 20.7% in controls; OR = 0.49, 95% CI: 0.29-0.85; p = 0.011). Furthermore, we found that it was also associated with reduced risk of both unilateral AMD (OR = 0.52, 95% CI: 0.28-0.98; p = 0.043) and bilateral AMD (OR = 0.45, 95% CI: 0.22-0.91; p = 0.026). Rs10468017 in LIPC, rs12678919 near LPL and rs1883025 in ABCA1 were not found to be associated with advanced AMD (all p > 0.05).
Conclusion: Our data suggested that the allele A in rs3764261 in CETP gene may be associated with a decreased risk of advanced AMD in Chinese population.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.