Article
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
European journal of human genetics : EJHG - 1 Apr 2018
Fadista João, Lund Marie, Skotte Line, Geller Frank, Nandakumar Priyanka, Chatterjee Sumantra, Matsson Hans, Granström Anna Löf, Wester Tomas, Salo Perttu, Virtanen Valtter, Carstensen Lisbeth, Bybjerg-Grauholm Jonas, Hougaard David Michael, Pakarinen Mikko, Perola Markus, Nordenskjöld Agneta, Chakravarti Aravinda, Melbye Mads, Feenstra Bjarke
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live births, defined by an absence of enteric ganglia along variable lengths of the colon. HSCR genome-wide association studies (GWAS) have found common associated variants at RET, SEMA3, and NRG1, but they still fail to explain all of its heritability. To enhance gene discovery, we performed a GWAS of 170 cases identified...
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