PURPOSE: 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. METHODS: 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 A1, lipoprotein a, cholesterol, triglycerides, and HDL-cholesterol were determined. RESULTS: 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. CONCLUSIONS: 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.
PURPOSE: 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 AMDpatients compared with control individuals. METHODS: 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 A1, lipoprotein a, cholesterol, triglycerides, and HDL-cholesterol were determined. RESULTS: 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 AMDpatients. Other lipids and lipoproteins were not significantly altered. CONCLUSIONS: 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.
Authors: Freerk G Venhuizen; Bram van Ginneken; Bart Liefers; Mark J J P van Grinsven; Sascha Fauser; Carel Hoyng; Thomas Theelen; Clara I Sánchez Journal: Biomed Opt Express Date: 2017-06-16 Impact factor: 3.732
Authors: Johannes P H van de Ven; Sara C Nilsson; Perciliz L Tan; Gabriëlle H S Buitendijk; Tina Ristau; Frida C Mohlin; Sander B Nabuurs; Frederieke E Schoenmaker-Koller; Dzenita Smailhodzic; Peter A Campochiaro; Donald J Zack; Maheswara R Duvvari; Bjorn Bakker; Codrut C Paun; Camiel J F Boon; Andre G Uitterlinden; Sandra Liakopoulos; B Jeroen Klevering; Sascha Fauser; Mohamed R Daha; Nicholas Katsanis; Caroline C W Klaver; Anna M Blom; Carel B Hoyng; Anneke I den Hollander Journal: Nat Genet Date: 2013-05-19 Impact factor: 38.330