Article
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
Human molecular genetics - 15 Feb 2017
Ludwig Kerstin U, Böhmer Anne C, Bowes John, Nikolic Miloš, Ishorst Nina, Wyatt Niki, Hammond Nigel L, Gölz Lina, Thieme Frederic, Barth Sandra, Schuenke Hannah, Klamt Johanna, Spielmann Malte, Aldhorae Khalid, Rojas-Martinez Augusto, Nöthen Markus M, Rada-Iglesias Alvaro, Dixon Michael J, Knapp Michael, Mangold Elisabeth
Abstract excerpt
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals...
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