Article
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Human molecular genetics - 1 Dec 2016
Tang Clara Sze-Man, Gui Hongsheng, Kapoor Ashish, Kim Jeong-Hyun, Luzón-Toro Berta, Pelet Anna, Burzynski Grzegorz, Lantieri Francesca, So Man-Ting, Berrios Courtney, Shin Hyoung Doo, Fernández Raquel M, Le Thuy-Linh, Verheij Joke B G M, Matera Ivana, Cherny Stacey S, Nandakumar Priyanka, Cheong Hyun Sub, Antiñolo Guillermo, Amiel Jeanne, Seo Jeong-Meen, Kim Dae-Yeon, Oh Jung-Tak, Lyonnet Stanislas, Borrego Salud, Ceccherini Isabella, Hofstra Robert M W, Chakravarti Aravinda, Kim Hyun-Young, Sham Pak Chung, Tam Paul K H, Garcia-Barceló Maria-Mercè
Abstract excerpt
Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower gastrointestinal tract. So far, three common disease-susceptibility variants at the RET, SEMA3 and NRG1 loci have been detected through genome-wide association studies (GWAS) in Europeans and Asians to understand its genetic etiologies. Here we...
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