Article
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
Human molecular genetics - 28 Nov 2022
Narumi Satoshi, Opitz Robert, Nagasaki Keisuke, Muroya Koji, Asakura Yumi, Adachi Masanori, Abe Kiyomi, Sugisawa Chiho, Kühnen Peter, Ishii Tomohiro, Nöthen Markus M, Krude Heiko, Hasegawa Tomonobu
Abstract excerpt
Congenital hypothyroidism due to thyroid dysgenesis (TD), presented as thyroid aplasia, hypoplasia or ectopia, is one of the most prevalent rare diseases with an isolated organ malformation. The pathogenesis of TD is largely unknown, although a genetic predisposition has been suggested. We performed a genome-wide association study (GWAS) with 142 Japanese TD cases and 8380 controls and found a significant locus...
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