A genome-wide perspective of genetic variation in human metabolism - PubMed

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson Å, Rudan I, Aulchenko YS, Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L, Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V; DIAGRAM Consortium; Nelson CP, Preuss M; CARDIoGRAM Consortium; Bis JC, O'Donnell CJ, Franceschini N; CHARGE Consortium; Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G; EUROSPAN consortium. Demirkan A, et al. PLoS Genet. 2012;8(2):e1002490. doi: 10.1371/journal.pgen.1002490. Epub 2012 Feb 16. PLoS Genet. 2012. PMID: 22359512 Free PMC article.

Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Chasman DI, Paré G, Zee RY, Parker AN, Cook NR, Buring JE, Kwiatkowski DJ, Rose LM, Smith JD, Williams PT, Rieder MJ, Rotter JI, Nickerson DA, Krauss RM, Miletich JP, Ridker PM. Chasman DI, et al. Circ Cardiovasc Genet. 2008 Oct;1(1):21-30. doi: 10.1161/CIRCGENETICS.108.773168. Circ Cardiovasc Genet. 2008. PMID: 19802338 Free PMC article.

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Demirkan A, Henneman P, Verhoeven A, Dharuri H, Amin N, van Klinken JB, Karssen LC, de Vries B, Meissner A, Göraler S, van den Maagdenberg AM, Deelder AM, C 't Hoen PA, van Duijn CM, van Dijk KW. Demirkan A, et al. PLoS Genet. 2015 Jan 8;11(1):e1004835. doi: 10.1371/journal.pgen.1004835. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25569235 Free PMC article.