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- W2883454098 abstract "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.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.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).There is an association between DSCAM polymorphisms and non-syndromic HSCR in South Chinese population." @default.
- W2883454098 created "2018-08-03" @default.
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- W2883454098 date "2018-07-13" @default.
- W2883454098 modified "2023-10-10" @default.
- W2883454098 title "Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population" @default.
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- W2883454098 doi "https://doi.org/10.1186/s12881-018-0637-2" @default.
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