Ontology highlight
ABSTRACT:
SUBMITTER: Hui KY
PROVIDER: S-EPMC6028002 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Hui Ken Y KY Fernandez-Hernandez Heriberto H Hu Jianzhong J Schaffner Adam A Pankratz Nathan N Hsu Nai-Yun NY Chuang Ling-Shiang LS Carmi Shai S Villaverde Nicole N Li Xianting X Rivas Manual M Levine Adam P AP Bao Xiuliang X Labrias Philippe R PR Haritunians Talin T Ruane Darren D Gettler Kyle K Chen Ernie E Li Dalin D Schiff Elena R ER Pontikos Nikolas N Barzilai Nir N Brant Steven R SR Bressman Susan S Cheifetz Adam S AS Clark Lorraine N LN Daly Mark J MJ Desnick Robert J RJ Duerr Richard H RH Katz Seymour S Lencz Todd T Myers Richard H RH Ostrer Harry H Ozelius Laurie L Payami Haydeh H Peter Yakov Y Rioux John D JD Segal Anthony W AW Scott William K WK Silverberg Mark S MS Vance Jeffery M JM Ubarretxena-Belandia Iban I Foroud Tatiana T Atzmon Gil G Pe'er Itsik I Ioannou Yiannis Y McGovern Dermot P B DPB Yue Zhenyu Z Schadt Eric E EE Cho Judy H JH Peter Inga I
Science translational medicine 20180101 423
Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the <i>LRRK2</i> gene that conferred risk for CD (N2081D variant, <i>P</i> = 9.5 × 10<sup>-10</sup>) ...[more]