Makhmudi Akhmad, Agustriani Nunik
Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.
Pediatr Surg Int. 2016 Nov;32(11):1025-1028. doi: 10.1007/s00383-016-3953-7. Epub 2016 Jul 28.
Recently, genetic markers within a locus on 7q21.11 containing the SEMA3A, SEMA3C, and SEMA3D genes were reported to be associated with Hirschsprung disease (HSCR). Here, we investigated three polymorphisms, rs1583147, rs12707682, and rs11766001, at this locus to determine their potential contributions to the susceptibility of Indonesian HSCR patients.
Three variants were analyzed in 60 non-syndromic HSCR patients and 118 ethnicity-matched controls for association studies by genotyping.
The risk allele frequencies of SEMA3 rs12707682 (allele C) and rs1583147 (allele T) is higher in cases, 53 and 23 %, than in controls, at 42 and 13 %, respectively. However, these frequency differences were not statistically significant with p value of 0.06 and 0.023, respectively. These findings were consistent with transmission disequilibrium test results with p values of 0.041 and 0.11 for rs12707682 and rs1583147, respectively. Furthermore, the frequencies of SEMA3 rs11766001 risk allele in HSCR cases and controls were 1.7 and 0.8 %, respectively.
SEMA3 rs12707682 and rs1583147 variants are not common risk factors for HSCR in Indonesia. The rarity of the SEMA3 rs11766001 polymorphism in Indonesian population might be due to a founder effect.
最近有报道称，位于7q21.11位点上包含SEMA3A、SEMA3C和SEMA3D基因的遗传标记与先天性巨结肠症（HSCR）相关。在此，我们研究了该位点的三个多态性位点rs1583147、rs12707682和rs11766001，以确定它们对印度尼西亚HSCR患者易感性的潜在影响。
通过基因分型对60例非综合征性HSCR患者和118例种族匹配的对照进行关联研究，分析这三个变体。
SEMA3 rs12707682（等位基因C）和rs1583147（等位基因T）的风险等位基因频率在病例组中分别为53%和23%，高于对照组，对照组分别为42%和13%。然而，这些频率差异无统计学意义，p值分别为0.06和0.023。这些结果与传递不平衡检验结果一致，rs12707682和rs1583147的p值分别为0.041和0.11。此外，HSCR病例组和对照组中SEMA3 rs11766001风险等位基因的频率分别为1.7%和0.8%。
SEMA3 rs12707682和rs1583147变体不是印度尼西亚HSCR的常见风险因素。印度尼西亚人群中SEMA3 rs11766001多态性的罕见性可能是由于奠基者效应。
