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Guy A. Hughes, Jiexi Zeng, Kevin Wang, Matthew Bedell, Henry Ferreyra, Mark Nelson, William Freeman, Igor Kozak, Yuhong Chen, Kang Zhang; LIPC Is A Possible Heritability Factor For Advanced Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5263.
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Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the Western world. It has been estimated that previously discovered CFH, C3, C2/CFB and HTRA1 regions can explain only approximately half of the heritability. In this study, we investigated the association between the hepatic lipase gene (LIPC) and AMD in a Caucasian cohort.
3 single nucleotide polymorphisms (SNPs), rs6083, rs10468017, and rs493258, at the locus of LIPC were chosen for the study. 647 patients with advanced AMD and 370 normal controls were genotyped. Chi square test was performed to compare the allele frequency between cases and controls. The findings were tested for replication in an independent 611 AMD patients and 273 controls.
rs493258, in the promoter region of LIPC was found associated with advanced AMD (p=0.04) in our first Caucasian cohort. The association was successfully replicated (p= 0.027) in the second independent cohort. When combined, there is an increase in association signals (p=2.78E-03) even after Bonferroni correction, with the similar risk to both GA (p=6.62E-03) and wet AMD (p=0.01). However, other SNPs in this locus did not show any association with advanced AMD.
The SNP, rs493258, in the promoter region of LIPC confers the similar risk in both cohorts of Caucasians with advanced AMD. Understanding the underlying molecular mechanism and the connections among all these discovered loci will provide important insight into the pathogenesis of AMD.
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