Variants in RET Associated With Hirschsprung's Disease Affect Binding of Transcription Factors and Gene Expression

More than one SNP on an associated haplotype can influence gene expression and ultimately disease phenotype. Binding of the transcription factors NXF, ARNT2, and SIM2 to RET depend on the RET polymorphism of Enh2 and affect RET expression and the development of Hirschsprung's disease.