ArticleBMC medical genetics2018
Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Time-resolved morphological and transcriptomic characterization of early enteric neuron subtype emergence in chick.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Effect of live combined Bifidobacterium and Lactobacillus tablets combined with Soave radical operation on postoperative intestinal flora and immune function in children with Hirschsprung disease.American journal of translational research · 2023Article
- Association Analysis of Variants ofFrontiers in cell and developmental biology · 2021Article
- Association betweenThe Journal of international medical research · 2020Article
- Down syndrome mouse models have an abnormal enteric nervous system.JCI insight · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. DSCAM was identified as associated to HSCR with Down Syndrome (DS-HSCR) in European population,but failed to replicate in the non-syndromic HSCR patients. We aim to further investigate the relationship of DSCAM with non-sydromic HSCR in a South Chinese cohort, the largest case-control study so far.
methodWe analyzed 1394 HSCR patients and 973 healthy controls. Two polymorphisms (rs2837770 A > G, rs8134673 A > G) on DSCAM were genotyped using Sequenom Massarray platform.
resultsBoth SNPs were confirmed as associated with non-syndromic HSCR in the South Chinese population (P = 1.69E-03, OR = 1.29 for SNP rs2837770 and P = 3.00E-03, OR = 1.27 for SNP rs8134637). Of note, we demonstrated the associated SNPs were more likely to affect a subgroup of patients with short-segment aganglionosis (S-HSCR) (P = 3.06E-03,OR = 1.21 for SNP rs2837770 and P = 3.33E-03,OR = 1.21 for SNP rs8134637).
conclusionThere is an association between DSCAM polymorphisms and non-syndromic HSCR in South Chinese population.
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