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.
Highlights
Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction
We demonstrated the associated SNPs were more likely to affect a subgroup of patients with short-segment aganglionosis (S-HSCR) (P = 3. 06E-03,odds ratio (OR) = 1.21 for SNP rs2837770 and P = 3.33E-03,OR = 1.21 for SNP rs8134637)
For SNP rs2837770, risk allele G was significantly associated with increased HSCR risk (OR = 1.16,95% confidence of intervals (CI) = 1.03~ 1.31, P = 1.25E-02)
Summary
Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. Hirschsprung disease (HSCR) is the most common, complex genetic disorder of the enteric nervous system (ENS) with an incidence of one in 5000 live births [1, 2]. It is characterized by the absence of enteric ganglia in the myenteric and submucosal plexuses along a variable length of the hindgut [3]. HSCR occur without other conditions were referred to as non-syndromic [2, 4].
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