ArticleThe journal of gene medicine2021
Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.
Article in The journal of gene medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- MicroRNA regulation of enteric nervous system development and disease.Trends in neurosciences · 2025Review
- The roles of non-coding RNAs in Hirschsprung's disease.Non-coding RNA research · 2024Review
- Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease.Biomolecules · 2024Article
- Pathogenic roles of microRNAs and competing endogenous RNAs in Hirschsprung disease (HSCR): Potential diagnostic markers for HSCR.Pediatric discovery · 2023Review
- Predicting miRNA-disease association through combining miRNA function and network topological similarities based on MINE.iScience · 2022Article
- Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children.The journal of gene medicine · 2021Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionHirschsprung disease (HSCR), characterized by the defective migration of enteric neural crest cells, is a severe congenital tract disease in infants. Its etiology is not clear at present, although a genetic component plays an important role in its etiology. Many studies focused on the polymorphisms of microRNA (miRNA) in several disease progressions have been reported, including HSCR. However, the findings remain inconclusive. The present study aimed to explore the association of genetic variants in miRNAs and HSCR susceptibility in Southern Chinese children.
methodsFive single nucleotide polymorphisms (SNPs) (miR-146A rs2910164, miR-4318 rs8096901, miR-3142 rs2431697, miR-3142 rs2431097 and miR-3142 rs5705329) were included to be genotyped in the stratified analysis through the Mass ARRAY iPLEX Gold system (Sequenom, San Diego, CA, USA) conducted on all the samples, comprising 1470 cases and 1473 controls. After quality control, the minor allele frequency was compared in cases and controls to analyze the association between SNPs and HSCR using PLINK 1.9 (https://www.cog-genomics.org/plink) and multiple heritability models were tested (additive, recessive and dominant models).
resultsOur results indicated that miR-4318 rs8096901 polymorphisms were associated with HSCR susceptibility in Southern Chinese children, especially in short-segment HSCR (S-HSCR) patients after stratified analysis.
conclusionsIn summary, we report that miR-4318 rs8096901 was associated with HSCR, especially in SHSCR patients.
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