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首页> 外文学位 >Candidate genes and non-syndromic cleft lip with or without cleft palate among case-parent trios from Chinese populations.
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Candidate genes and non-syndromic cleft lip with or without cleft palate among case-parent trios from Chinese populations.

机译：来自中国人群的病例亲本三重奏组中的候选基因和具有或不具有left裂的非综合征性唇裂。

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摘要

As a complex and heterogeneous birth defect, the etiology of non-syndromic cleft lip with/without cleft palate (CL/P) remains largely unknown. Chinese Han is among the populations with highest prevalence rates of CL/P. Besides conventional genetic mechanisms, gene---environment (GxE) interaction and parent-of-origin effects may also influence the risk to CL/P. Our objective was to investigate association between markers in interferon regulatory factor 6 gene (IRF6) and Runt-related transcription factor 2 gene (RUNX2), and non-syndromic CL/P among 326 Chinese case-parent trios, while considering parent-of-origin effects and GxE interaction.;CL/P case-parent trios were genotyped for 22 single nucleotide polymorphisms (SNPs) in IRF6 and 49 SNPs in RUNX2. After Bonferroni correction, fourteen SNPs of IRF6 showed statistically significant association with CL/P. Significant GxE interaction was found for multivitamin supplementation and environmental tobacco smoke (ETS). Two SNPs showed significant interaction with multivitamin supplementation ( rs2076153: P =0.019; rs17015218: P =0.012). In addition, rs1044516 yielded significant interaction with maternal ETS ( P=0.041). Haplotype analysis also suggested interaction between SNPs in IRF6 and both multivitamin supplementation and ETS. However, no maternal genotypic effects or significant parent-of-origin effects were seen in these data.;For RUNX2, one SNP (rs545289) showed statistically significant linkage and association with CL/P (permuted P=0.035). Another SNP (rs675613) yielded statistically significant imprinting [RR (imprinting) = 2.2]. Eight SNPs showed statistical significance when considering possible interaction with ETS. In addition, three SNPs yielded significant GxE interaction with maternal multivitamin supplementation. Haplotype analysis also suggested interaction between SNPs in RUNX2 and both maternal exposures. We conducted a replication study using a genome wide scan sample to confirm the findings of RUNX2. Independent samples from European populations showed consistent results of significant association and GxE interaction with ETS and multivitamin supplementation.;In conclusion, these results indicate the variation of markers in these two candidate genes contributes to the etiology of non-syndromic CL/P among Chinese populations. Our study also demonstrates gene-by-ETS and gene-by-multivitamin supplementation interactions for non-syndromic CL/P. With previous findings, our study suggests the presence of imprinting effect of RUNX2. Further comfirmation of these results in other populations or studies will be important.
机译：作为一种复杂而异质的先天性缺陷，具有/不具有pa裂（CL / P）的非综合征性唇裂的病因仍很未知。中国汉族是CL / P患病率最高的人群之一。除了传统的遗传机制外，基因-环境（GxE）相互作用和母本效应也可能影响CL / P的风险。我们的目标是调查326个中国病例-父母三重奏中干扰素调节因子6基因（IRF6）和Runt相关转录因子2基因（RUNX2）的标记与非综合征CL / P之间的关联，起源的影响和GxE的交互作用。对CL / P病例-父母三重奏进行了基因分型，确定了IRF6中的22个单核苷酸多态性（SNP）和RUNX2中的49个SNP。 Bonferroni校正后，IRF6的十四个SNPs与CL / P具有统计学意义的关联。发现在多种维生素补充剂和环境烟草烟雾（ETS）中存在显着的GxE相互作用。两个SNPs与多种维生素补充物之间具有显着的相互作用（rs2076153：P = 0.019; rs17015218：P = 0.012）。另外，rs1044516与母体ETS产生显着相互作用（P = 0.041）。单倍型分析还表明IRF6中的SNP与多种维生素补充剂和ETS之间存在相互作用。但是，在这些数据中没有观察到母体基因型效应或显着的原产地效应。对于RUNX2，一个SNP（rs545289）在统计上与CL / P有显着的联系和关联（排列P = 0.035）。另一个SNP（rs675613）产生了统计上显着的印记[RR（印记）= 2.2]。当考虑可能与ETS相互作用时，八个SNP显示出统计学意义。此外，三个SNP与母体补充多种维生素产生显着的GxE相互作用。单倍型分析还表明RUNX2中的SNP与母体暴露之间存在相互作用。我们使用全基因组扫描样品进行了复制研究，以证实RUNX2的发现。来自欧洲人群的独立样本显示出与ETS和多种维生素补充相关的显着关联以及GxE相互作用的一致结果。总而言之，这些结果表明这两个候选基因中标志物的变异有助于中国人群非综合征CL / P的病因。我们的研究还证明了非综合症CL / P的按ETS基因和按多种维生素补充基因的相互作用。根据先前的发现，我们的研究表明存在RUNX2的印迹作用。在其他人群或研究中进一步确认这些结果将很重要。

著录项

  • 作者

    Wu, Tao.;

  • 作者单位

    The Johns Hopkins University.;

  • 授予单位 The Johns Hopkins University.;
  • 学科 Biology Genetics.;Health Sciences Epidemiology.
  • 学位 Ph.D.
  • 年度 2011
  • 页码 193 p.
  • 总页数 193
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

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