Article
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
American journal of human genetics - 9 Jul 2010
Emison Eileen Sproat, Garcia-Barcelo Merce, Grice Elizabeth A, Lantieri Francesca, Amiel Jeanne, Burzynski Grzegorz, Fernandez Raquel M, Hao Li, Kashuk Carl, West Kristen, Miao Xiaoping, Tam Paul K H, Griseri Paola, Ceccherini Isabella, Pelet Anna, Jannot Anne-Sophie, de Pontual Loic, Henrion-Caude Alexandra, Lyonnet Stanislas, Verheij Joke B G M, Hofstra Robert M W, Antiñolo Guillermo, Borrego Salud, McCallion Andrew S, Chakravarti Aravinda
Abstract excerpt
The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that probably arose once within the intronic RET enhancer MCS+9.7....
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