Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the western world. The advanced forms of AMD cause central visual acuity loss and lead to severe visual impairment and blindness.It has been estimated that previously discoveredcomplement factor H (CFH), complement component 2 (C2) , complement component 3 (C3),complement factor B (CFB), and age-related maculopathy susceptibility 2 (ARMS2)/the high temperature requirement factor A1 (HTRA1) regions can only explain approximately half the heritability of AMD. Variants in the hepatic lipase (LIPC) were recently reported to be associated with increased AMD risk. In this study, weinvestigated the association between LIPC and AMD in two Caucasian populations.
Two single nucleotide polymorphisms (SNPs), rs10468017 and rs493258, in the promoter region of LIPC were genotyped in an Utah population of 644 patients with advanced AMD and 366 normal controls. Chi square tests were performed to compare the allele freqencies between cases and controls. The findings were replicated in an independent cohort of 609 Age-Related Eye Disease Study(AREDS) advanced AMD patients as well as 136 AREDS controls and 138 controls from Illumina iControl database. Four other SNPs, rs4775041, rs397923, rs261342, and rs1800588 across the LIPC gene were genotyped.
Rs493258, in the promoter region of LIPC, was found to be associated with advanced AMD (p=0.04) in the Utah Caucasian cohort. The result was replicated in an independent AREDS Caucasian cohort (p= 0.027). The association was found to be more significant when the two cohorts were combined (p=2.78E-03), with similar risks to GA (p=6.62E-03) or wet AMD (p=0.01). The findings remained significant after Bonferroni correction. No significant association between other 5 SNPs and advanced AMD was found.
The LIPC promoter variant rs493258 was associated with an increased risk of advanced AMD in our study. LIPC is another candidate gene for genetic susceptibility for AMD. Understanding the underlying molecular mechanism and the role of lipid metabolism in pathogenesis of AMD will provide an important insight into the pathogenesis of AMD. | 
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