Erratum to: RET and NRG1 interplay in Hirschsprung disease
نویسندگان
چکیده
منابع مشابه
Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease
The RET proto-oncogene was identified as a major locus involved in Hirschsprung disease (HSCR). A genome-wide association study (GWAS) and whole exome sequencing identified NRG1 and NRG3 as additional HSCR susceptibility loci. We investigated the effects of RET (rs2506030 and rs2435357), NRG1 (rs2439302, rs16879552 and rs7835688) and NRG3 (rs10748842, rs10883866 and rs6584400) polymorphisms in ...
متن کاملPopulation variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.
The risk of Hirschsprung disease (HSCR) is ∼15/100 000 live births per newborn but has been reported to show significant inter-individual variation from the effects of seven common susceptibility alleles at the RET, SEMA3 and NRG1 loci. We show, by analyses of these variants in 997 samples from 376 HSCR families of European ancestry, that significant genetic risk can only be detected at RET (rs...
متن کاملc-Ret-mediated hearing loss in mice with Hirschsprung disease.
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...
متن کامل1 TITLE : TTF - 1 and RET promoter SNPs : regulation of RET transcription in Hirschsprung ' s disease
Single nucleotide polymorphisms (SNPs) of the coding regions of RET are associated with Hirschsprung’s disease (HSCR, aganglionic megacolon,). These SNPs, individually or combined, may act as a low penetrance susceptibility locus or/and be in linkage disequilibrium (LD) with another susceptibility locus located in RET regulatory regions. Because two RET promoter SNPs have been found associated ...
متن کاملDifferential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
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 e...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2014
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-014-1429-1