Wang Yong, He Qiuming, Zhang Ruizhong, Zhong Wei, Zhu Deli, Zhang Yan, Xia Huimin
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
BMC Med Genet. 2018 Jul 13;19(1):116. doi: 10.1186/s12881-018-0637-2.
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.
先天性巨结肠（HSCR，无神经节细胞性巨结肠）是先天性肠梗阻最常见的遗传病因。在欧洲人群中，唐氏综合征相关先天性巨结肠（DS-HSCR）患者中发现DSCAM与HSCR有关，但在非综合征性HSCR患者中未能重复验证。我们旨在通过迄今为止最大的病例对照研究，进一步调查中国南方人群中DSCAM与非综合征性HSCR的关系。
我们分析了1394例HSCR患者和973名健康对照。使用Sequenom Massarray平台对DSCAM上的两个多态性位点（rs2837770 A>G、rs8134673 A>G）进行基因分型。
在中国南方人群中，这两个单核苷酸多态性（SNP）均被证实与非综合征性HSCR相关（rs2837770 SNP的P=1.69E-03，OR=1.29；rs8134637 SNP的P=3.00E-03，OR=1.27）。值得注意的是，我们发现相关SNP更有可能影响短节段无神经节细胞症（S-HSCR）患者亚组（rs2837770 SNP的P=3.06E-03，OR=1.21；rs8134637 SNP的P=3.33E-03，OR=1.21）。
在中国南方人群中，DSCAM多态性与非综合征性HSCR之间存在关联。
