A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF

Background & Aims Crohn’s disease (CD) has the highest prevalence in Ashkenazi Jewish populations. We sought to identify rare, CD-associated frameshift variants of high functional and statistical effects. Methods We performed exome sequencing and array-based genotype analyses of 1477 Ashkenazi J...

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Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2016-10, Vol.151 (4), p.710-723.e2
Hauptverfasser:	Chuang, Ling-Shiang, Villaverde, Nicole, Hui, Ken Y, Mortha, Arthur, Rahman, Adeeb, Levine, Adam P, Haritunians, Talin, Evelyn Ng, Sok Meng, Zhang, Wei, Hsu, Nai-Yun, Facey, Jody-Ann, Luong, Tramy, Fernandez-Hernandez, Heriberto, Li, Dalin, Rivas, Manuel, Schiff, Elena R, Gusev, Alexander, Schumm, L. Phillip, Bowen, Beatrice M, Sharma, Yashoda, Ning, Kaida, Remark, Romain, Gnjatic, Sacha, Legnani, Peter, George, James, Sands, Bruce E, Stempak, Joanne M, Datta, Lisa W, Lipka, Seth, Katz, Seymour, Cheifetz, Adam S, Barzilai, Nir, Pontikos, Nikolas, Abraham, Clara, Dubinsky, Marla J, Targan, Stephan, Taylor, Kent, Rotter, Jerome I, Scherl, Ellen J, Desnick, Robert J, Abreu, Maria T, Zhao, Hongyu, Atzmon, Gil, Pe’er, Itsik, Kugathasan, Subra, Hakonarson, Hakon, McCauley, Jacob L, Lencz, Todd, Darvasi, Ariel, Plagnol, Vincent, Silverberg, Mark S, Muise, Aleixo M, Brant, Steven R, Daly, Mark J, Segal, Anthony W, Duerr, Richard H, Merad, Miriam, McGovern, Dermot P.B, Peter, Inga, Cho, Judy H
Format:	Artikel
Sprache:	eng
Schlagworte:	Case-Control Studies Crohn Disease - ethnology Crohn Disease - genetics Crohn Disease - pathology Cytokine Receptor Common beta Subunit - genetics Ethnic Variation Female Frameshift Mutation Gastroenterology and Hepatology Granulocyte-Macrophage Colony-Stimulating Factor - metabolism Humans IBD Inflammatory Bowel Disease Intestines - cytology Intestines - pathology Jews - genetics Male Monocytes - metabolism Risk Factor Risk Factors Signal Transduction - genetics
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