Project description:Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for its application in this scenario. To overcome this problem we have used here a combined strategy in which a functional association study (pathway-based analysis) has been conducted to prioritize candidate genes in a Spanish cohort of 53 trios of short-segment Hirschsprung's disease that have been further validated in a larger population of 146 trios. The study revealed a strong association of 10 gene ontology (GO) modules related to signal transduction and its regulation, enteric nervous system (ENS) formation and other HSCR-related processes to the disease. A total of 10 new loci among the preselected candidates were found to be significantly associated to HSCR. This approach, based on the study of functionally-related gene sets, requires of lower sample sizes and opens new opportunities for the study of rare diseases.

2012-03-18 | GSE33732 | GEO

Affymetrix SNP array data for short-segment Hirschsprung trios

2012-03-18 | E-GEOD-33732 | biostudies-arrayexpress

Microarray analysis of NS-SV-AC cells treated with TNF-a

Project description:TNF-a markedly induced the expression of IP-10 in NS-SV-AC cells. We identified TNF-a-induced genes in NS-SV-AC cells using Affymetrix GeneAtlasTM System.

2021-06-30 | GSE69050 | GEO

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