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Exploring GRHL3 polymorphisms and SNP-SNP interactions in the risk of non-syndromic oral clefts in the Brazilian population.

探索巴西人群非综合征性口腔裂隙风险中的GRHL3 多态性和SNP-SNP交互作用。

  • 影响因子:2.28
  • DOI:10.1111/odi.13204
  • 作者列表:"Azevedo CMS","Machado RA","Martelli-Júnior H","Reis SRA","Persuhn DC","Coletta RD","Rangel ALCA
  • 发表时间:2020-01-01
Abstract

OBJECTIVE:To investigate the association of single-nucleotide polymorphisms (SNP) in grainyhead-like 3 (GRHL3) and to verify its possible interactions with others genes responsible for craniofacial development in the risk of non-syndromic oral cleft (NSOC). METHODS:Applying TaqMan allelic discrimination assays, we evaluated GRHL3 SNPs (rs10903078, rs41268753, and rs4648975) in an ancestry-structured case-control sample composed of 1,127 Brazilian participants [272 non-syndromic cleft palate only (NSCPO), 242 non-syndromic cleft lip only (NSCLO), 319 non-syndromic cleft lip and palate (NSCLP), and 294 healthy controls]. Additionally, SNP-SNP interactions of GRHL3 and previously reported variants in FAM49A, FOXE1, NTN1, and VAX1 were verified in non-syndromic cleft lip with or without cleft palate (NSCL ± P). To eliminate false-positive associations, Bonferroni correction or 1,000 permutation method was applied. RESULTS:The multiple logistic regression analysis showed that the CC genotype of rs10903078 (p = .03) and the haplotype C-C formed by the SNPs rs10903078 and rs41268753 (p = .04) were associated with NSCLO, but the p-values did not withstand Bonferroni correction. However, SNP-SNP test revealed significant interactions between GRHL3 SNPs and FAM49A (rs7552), FOXE1 (rs3758249), VAX1 (rs7078160 and rs751231), and NTN1 (rs9891446). CONCLUSIONS:Our results confirm the importance of GRHL3 and its interactions with previously NSOC-associated genes, including FAM49A, FOXE1, NTN1, and VAX1, in the pathogenesis of NSOC in the Brazilian population.

摘要

目的: 探讨grainyhead-like 3 (GRHL3) 基因单核苷酸多态性 (SNP) 的相关性。并验证其与非综合征性口腔裂 (NSOC) 风险中与其他负责颅面发育的基因可能的相互作用。 方法: 应用TaqMan等位基因辨别试验,我们评价了GRHL3 SNPs (rs10903078 、rs41268753 和rs4648975) 在由 1,127 名巴西参与者组成的祖先结构的病例对照样本中 [272 只非综合征性腭裂 (NSCPO),242 只非综合征性唇裂 (NSCLO),319 例非综合征性唇腭裂 (NSCLP),294 例健康对照]。此外,在非综合征性唇裂伴或不伴腭裂中验证了GRHL3 的SNP-SNP相互作用和以前报道的FAM49A、FOXE1 、NTN1 和VAX1 的变异 (NSCL ± P)。为了消除假阳性关联,采用Bonferroni校正或 1,000 排列法。 结果: 多元logistic回归分析显示,rs10903078 的CC基因型 (p = .03) 和SNPs rs10903078 和rs41268753 形成的单倍型C-C (p = .04) 与NSCLO相关,但p值不耐受Bonferroni校正。然而,SNP-SNP检测发现GRHL3 SNPs与FAM49A (rs7552) 、FOXE1 (rs3758249) 、VAX1 (rs7078160 和rs751231) 和NTN1 (rs9891446) 之间存在显著的相互作用。 结论: 我们的结果证实了GRHL3 及其与先前NSOC相关基因,包括FAM49A、FOXE1 、NTN1 和VAX1 在巴西人群NSOC发病中的重要性及其相互作用。

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影响因子:0.95
发表时间:2020-02-01
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影响因子:2.43
发表时间:2020-01-15
DOI:10.5435/JAAOS-D-16-00918
作者列表:["Grigoryan G","Korcek L","Eidelman M","Paley D","Nelson S"]

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