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 

SUBMITTER: Wang Y 

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

REPOSITORIES: biostudies-literature