Association of LIPC and advanced age-related macular degeneration

• Published in: Eye (London) Vol. 27; no. 2; pp. 265 - 271
• Main Authors: Lee, J, Zeng, J, Hughes, G, Chen, Y, Grob, S, Zhao, L, Lee, C, Krupa, M, Quach, J, Luo, J, Wei, X, Zhang, X, Zhu, J, Duan, Y, Ferreyra, H, Goldbaum, M, Haw, W, Shaw, P X, Tang, L, Zhang, K
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.02.2013; Nature Publishing Group
• Subjects: 631/208/205; 631/208/726/649; 631/378/1689/1626; 692/499; Aged; Aged, 80 and over; Alleles; Cohort Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Laboratory Medicine; Laboratory Study; Lipase - genetics; Macular Degeneration - genetics; Male; Medicine; Medicine & Public Health; Middle Aged; Ophthalmology; Pharmaceutical Sciences/Technology; Polymorphism, Single Nucleotide; Promoter Regions, Genetic - genetics; Surgery; Surgical Oncology; advanced age-related macular degeneration; genetics; hepatic lipase
• ISSN: 0950-222X; 1476-5454
• DOI: 10.1038/eye.2012.276

Purpose To determine whether there is an association between hepatic lipase ( LIPC ) and age-related macular degeneration (AMD) in two independent Caucasian cohorts. Methods A discovery cohort of 1626 patients with advanced AMD and 859 normal controls and a replication cohort of 2159 cases and 1150 controls were genotyped for two single-nucleotide polymorphisms (SNPs) in the promoter region of LIPC . The associations between the SNPs and AMD were examined by χ 2 tests. Results In the discovery cohort, rs493258 and rs10468017 were both associated with advanced AMD ( P =9.63E−3 and P =0.048, respectively). The association was corroborated in the replication cohort ( P =4.48E−03 for rs493258 and P =0.015 for rs10468017). Combined analysis resulted in even more significant associations ( P =1.21E−04 for rs493258 and P =1.67E−03 for rs10468017). Conclusion The LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD in two independent Caucasian populations, confirming that LIPC polymorphisms may be a genetic risk factor for AMD in the Caucasian population.