Effects of SEMA3 polymorphisms in Hirschsprung disease patients
Effects of SEMA3 polymorphisms in Hirschsprung disease patients
复制标题
DOI：
10.1007/s00383-016-3953-7
复制
发表时间：
2016-11-01
影响因子：
1.8
通讯作者：
Rochadi
中科院分区：
文献类型：
--
作者：
Gunadi;Makhmudi, Akhmad;Rochadi
最近，有报道称，7q21.11位点内含有SEMA3A、SEMA3C和SEMA3D基因的遗传标记与巨结肠病（HSCR）相关。在这里，我们研究了该位点的三个多态性rs1583147、rs12707682和rs11766001，以确定它们对印度尼西亚HSCR患者易感性的潜在贡献。通过基因分型分析60名非综合征型HSCR患者和118名种族匹配对照者的3种变异。病例中SEMA3 rs12707682（等位基因C）和rs1583147（等位基因T）的风险等位基因频率分别为53%和23%，高于对照组的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。rs12707682和rs1583147的p值分别为0.041和0.11，与遗传不平衡检验结果一致。此外，SEMA3 rs11766001风险等位基因在HSCR病例和对照组中的频率分别为1.7%和0.8%。SEMA3 rs12707682和rs1583147变体在印度尼西亚不是HSCR的常见危险因素。印度尼西亚人群中SEMA3 rs11766001多态性的罕见性可能与奠基人效应有关。
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.