Article
Genetic determinants of circulating sphingolipid concentrations in European populations.
PLoS genetics - 1 Oct 2009
Hicks Andrew A, Pramstaller Peter P, Johansson Asa, Vitart Veronique, Rudan Igor, Ugocsai Peter, Aulchenko Yurii, Franklin Christopher S, Liebisch Gerhard, Erdmann Jeanette, Jonasson Inger, Zorkoltseva Irina V, Pattaro Cristian, Hayward Caroline, Isaacs Aaron, Hengstenberg Christian, Campbell Susan, Gnewuch Carsten, Janssens A Cecilej W, Kirichenko Anatoly V, König Inke R, Marroni Fabio, Polasek Ozren, Demirkan Ayse, Kolcic Ivana, Schwienbacher Christine, Igl Wilmar, Biloglav Zrinka, Witteman Jacqueline C M, Pichler Irene, Zaboli Ghazal, Axenovich Tatiana I, Peters Annette, Schreiber Stefan, Wichmann H-Erich, Schunkert Heribert, Hastie Nick, Oostra Ben A, Wild Sarah H, Meitinger Thomas, Gyllensten Ulf, van Duijn Cornelia M, Wilson James F, Wright Alan, Schmitz Gerd, Campbell Harry
Abstract excerpt
Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences. Increasingly, variants within a few of the genes that encode enzymes involved in sphingolipid metabolism are being associated with complex disease phenotypes. Direct experimental...
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