Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population
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DOI：
10.1111/j.1601-0825.2009.01627.x
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发表时间：
2010-03-01
期刊：
影响因子：
3.8
通讯作者：
Coletta, R. D.
中科院分区：
文献类型：
--
作者：
Paranaiba, L. M. R.;Bufalino, A.;Coletta, R. D.
背景：干扰素调节因子6(IRF6)基因已成为不同人群中非综合征性唇腭裂(NSCL/P)的潜在易感基因。方法：采用聚合酶链式反应-限制性片段长度多态性分析方法，对228例NSCL/P患者和126例正常对照进行基因分型。结果：rs2235371和rs642961基因多态性分布符合Hardy-Weinberg平衡检验。Rs2235371多态基因型GA在NSCL/P组和对照组分别为10.1%和10.3%，两组间差异无统计学意义。同样，在对照组(28.6%)和NSCL/P组(25.4%)中，rs642961次要基因型(GA和AA)的频率非常相似，没有显著差异。结论：我们的发现与巴西人群中IRF6基因rs2235371和rs642961多态在NSCL/P发病机制中的缺失是一致的。
Background:Interferon regulatory factor 6 (IRF6) gene has emerged as a potential susceptibility gene for non-syndromic cleft lip and/or palate (NSCL/P) in different populations. The aim of this study was to determine the association of IRF6 rs2235371 and rs642961 polymorphisms with NSCL/P in a Brazilian population.Methods:Two hundred and twenty-eight patients affected by NSCL/P and 126 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.Results:Overall genotype distributions of rs2235371 and rs642961 polymorphisms were as expected by Hardy-Weinberg equilibrium test. The rs2235371 polymorphic genotype GA was identified in 10.1% of the patients with NSCL/P and in 10.3% of the control group, revealing no statistical difference. Similarly, the frequency of rs642961 minor genotypes (GA and AA) was quite similar between control group (28.6%) and NSCL/P group (25.4%), without significant difference.Conclusion:Our findings are consistent with a lack of involvement of IRF6 rs2235371 and rs642961 polymorphisms in the NSCL/P pathogenesis in the Brazilian population.