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Sascha Fauser, Dzenita Smailhodzic, Albert Caramoy, Johannes P.H. van de Ven, Bernd Kirchhof, Carel B. Hoyng, B. Jeroen Klevering, Sandra Liakopoulos, Anneke I. den Hollander; Evaluation of Serum Lipid Concentrations and Genetic Variants at High-Density Lipoprotein Metabolism Loci and TIMP3 in Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2011;52(8):5525-5528. doi: 10.1167/iovs.10-6827.
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To analyze the association between polymorphisms in the TIMP3 gene and genes of the high-density lipoprotein (HDL) metabolism and age-related macular degeneration (AMD), and evaluate serum lipid and lipoprotein levels in AMD patients compared with control individuals.
Single nucleotide polymorphisms in or near the TIMP3, ABCA1, FADS1–3, CETP, LIPC, and LPL genes were genotyped. Serum levels of apolipoprotein B (ApoB), apolipoprotein A2, lipoprotein a, cholesterol, triglycerides, and HDL-cholesterol were determined.
Significant associations were found between AMD and variants in ABCA1 and FADS1–3, and a nearly significant association in TIMP3. No significant associations were observed for variants in LPL, LIPC, and CETP. We also observed a significant elevation of ApoB levels in serum of AMD patients. Other lipids and lipoproteins were not significantly altered.
These results confirm associations of AMD with variants near the TIMP3 gene and at loci involved in HDL metabolism. They further highlight a role of the extracellular matrix and the HDL metabolism in the pathogenesis of AMD. This study identified increased ApoB levels as a possible new serum biomarker for AMD.
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