Hirschsprung’s Disease in Patients of Advanced Age

Vrints, Ina; Costache, Mircea; Dobos, Sebastian; Sondji, Sixte; Fiasse, Michel; Landen, S

doi:10.1016/j.ijge.2012.01.003

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…HSCR is a functional intestinal obstruction characterized by congenital absence of enteric neurons along a variable length of the bowel, and accordingly, it can be anatomically classified as short segment HSCR (S-HSCR), long segment HSCR (L-HSCR) and total colonic aganglionosis (TCA), and approximately 80% of HSCR cases belong to S-HSCR [2]. Of note, Hirschsprung disease has also been identified in elderly patients, including a 70-year-old male and a 67-year-old female [3,4]. Additionally, gastrointestinal abnormalities were observed in patients with Parkinson's disease (PD) over 30 years ago, indicating that the enteric nervous system (ENS) might be involved in PD, and mouse models of PD pathogenesis also show varying degrees of enteric neuronal dysfunction [5].…”

Section: Introductionmentioning

confidence: 99%

Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease

Wang

Jiang

Cai

et al. 2020

Aging

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Hirschsprung disease (HSCR), the most common enteric neuropathy, stands as a model for complex genetic disorders. It has recently been demonstrated that both ARHGEF3 and CTNNAL1 map to the RET-dependent HSCR susceptibility loci. We therefore sought to explore whether genetic variants within RET, ARHGEF3 and CTNNAL1, and their genetic interaction networks are associated with HSCR. Taking advantage of a strategy that combined the MassArray system and gene-gene interaction analysis with case-control study, we interrogated 38 polymorphisms within RET, ARHGEF3 and CTNNAL1 in 1015 subjects (502 HSCR cases and 513 controls) of Han Chinese origin. There were statistically significant associations between 20 genetic variants in these three genes and HSCR. Haplotype analysis also revealed some significant global P values, i.e. RET_ rs2435357-rs752978-rs74400468-rs2435353-rs2075913-rs17028-rs2435355 (P = 3.79×10-58). Using the MDR and GeneMANIA platforms, we found strong genetic interactions among RET, ARHGEF3, and CTNNAL1 and our previously studied GAL, GAP43, NRSN1, PTCH1, GABRG2 and RELN genes. These results offer the first indication that genetic markers of RET, ARHGEF3 and CTNNAL1 and relevant genetic interaction networks confer the altered risk to HSCR in the Han Chinese population.

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Section: Introductionmentioning

confidence: 99%