Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.

ABSTRACT: BACKGROUND:Hirschsprung 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. METHOD:We analyzed 1394 HSCR patients and 973 healthy controls. Two polymorphisms (rs2837770 A?>?G, rs8134673 A?>?G) on DSCAM were genotyped using Sequenom Massarray platform. RESULTS:Both 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). CONCLUSION:There is an association between DSCAM polymorphisms and non-syndromic HSCR in South Chinese population.

SUBMITTER: Wang Y 

PROVIDER: S-EPMC6045829 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature