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

作者：Wang, Yong; He, Qiuming; Zhang, Ruizhong; Zhong, Wei; Zhu, Deli; Zhang, Yan^*; Xia, Huimin^*

来源：BMC Medical Genetics, 2018, 19(1): 116.

DOI：10.1186/s12881-018-0637-2

• Hirschsprung disease
• DSCAM
• Association
• Genetics

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.

• 出版日期2018-7-13
• 单位广州医科大学; 广州市妇女儿童医疗中心