@article{a5fd7d5f41a2473c84d3d4ac9dc154db,
title = "The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals",
abstract = "To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.",
keywords = "Journal Article",
author = "Ehret, {Georg B} and Teresa Ferreira and Chasman, {Daniel I} and Jackson, {Anne U} and Schmidt, {Ellen M} and Toby Johnson and Gudmar Thorleifsson and Jian'an Luan and Donnelly, {Louise A} and Stavroula Kanoni and Ann-Kristin Petersen and Vasyl Pihur and Strawbridge, {Rona J} and Dmitry Shungin and Hughes, {Maria F} and Osorio Meirelles and Marika Kaakinen and Nabila Bouatia-Naji and Kati Kristiansson and Sonia Shah and Kleber, {Marcus E} and Xiuqing Guo and Leo-Pekka Lyytik{\"a}inen and Cristiano Fava and Niclas Eriksson and Nolte, {Ilja M} and Magnusson, {Patrik K} and Salfati, {Elias L} and Rallidis, {Loukianos S} and Elizabeth Theusch and Smith, {Andrew J P} and Lasse Folkersen and Kate Witkowska and Pers, {Tune H} and Roby Joehanes and Kim, {Stuart K} and Lazaros Lataniotis and Rick Jansen and Johnson, {Andrew D} and Helen Warren and Kim, {Young Jin} and Wei Zhao and Ying Wu and Tayo, {Bamidele O} and Murielle Bochud and Devin Absher and Adair, {Linda S} and Cristina Menni and O'Reilly, {Paul F} and Spector, {Tim D} and {CHARGE-EchoGen Consortium} and {CHARGE-HF Consortium} and {Wellcome Trust Case Control Consortium}",
year = "2016",
month = oct,
doi = "10.1038/ng.3667",
language = "English",
volume = "48",
pages = "1171--84",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. SN -",
number = "10",
}