IRF6 基因与母亲多维元素补充剂在控制唇裂伴/不伴腭裂风险中的基因-环境相互作用的证据。

Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

机构信息

Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.

出版信息

Hum Genet. 2010 Oct;128(4):401-10. doi: 10.1007/s00439-010-0863-y. Epub 2010 Jul 23.

Abstract

Although multiple genes have been identified as genetic risk factors for isolated, non-syndromic cleft lip with/without cleft palate (CL/P), a complex and heterogeneous birth defect, interferon regulatory factor 6 gene (IRF6) is one of the best documented genetic risk factors. In this study, we tested for association between markers in IRF6 and CL/P in 326 Chinese case-parent trios, considering gene-environment interaction for two common maternal exposures, and parent-of-origin effects. CL/P case-parent trios from three sites in mainland China and Taiwan were genotyped for 22 single nucleotide polymorphisms (SNPs) in IRF6. The transmission disequilibrium test was used to test for marginal effects of individual SNPs. We used PBAT to screen the SNPs and haplotypes for gene-environment (G×E) interaction and conditional logistic regression models to quantify effect sizes for SNP-environment interaction. After Bonferroni correction, 14 SNPs showed statistically significant association with CL/P. Evidence of G×E interaction was found for both maternal exposures, multivitamin supplementation and environmental tobacco smoke (ETS). Two SNPs showed evidence of interaction with multivitamin supplementation in conditional logistic regression models (rs2076153 nominal P=0.019, rs17015218 nominal P=0.012). In addition, rs1044516 yielded evidence for interaction with maternal ETS (nominal P=0.041). Haplotype analysis using PBAT also suggested interaction between SNPs in IRF6 and both multivitamin supplementation and ETS. However, no evidence for maternal genotypic effects or significant parent-of-origin effects was seen in these data. These results suggest IRF6 gene may influence risk of CL/P through interaction with multivitamin supplementation and ETS in the Chinese population.

摘要

虽然多个基因已被确定为孤立的、非综合征性唇裂伴/不伴腭裂(CL/P)的遗传风险因素,这是一种复杂且异质性的出生缺陷,但干扰素调节因子 6 基因(IRF6)是最有文献记载的遗传风险因素之一。在这项研究中,我们在中国三个大陆和台湾的 326 个病例-父母三体型中测试了 IRF6 中的标记物与 CL/P 之间的关联,同时考虑了两种常见的母体暴露因素(环境因素)的基因-环境相互作用以及母源遗传效应。中国大陆和台湾的三个地点的 CL/P 病例-父母三体型对 IRF6 中的 22 个单核苷酸多态性(SNP)进行了基因分型。使用传递不平衡检验(TDT)来检验单个 SNP 的边缘效应。我们使用 PBAT 筛选 SNP 和单体型的基因-环境(G×E)相互作用,使用条件逻辑回归模型来量化 SNP-环境相互作用的效应大小。经过 Bonferroni 校正,14 个 SNP 与 CL/P 具有统计学意义上的关联。母体暴露(多种维生素补充和环境烟草烟雾)都存在 G×E 相互作用的证据。在条件逻辑回归模型中,有两个 SNP 显示出与多种维生素补充剂相互作用的证据(rs2076153 名义 P=0.019,rs17015218 名义 P=0.012)。此外,rs1044516 与母体 ETS 相互作用的证据也具有统计学意义(名义 P=0.041)。使用 PBAT 进行的单体型分析也表明,IRF6 基因中的 SNP 与多种维生素补充剂和 ETS 之间存在相互作用。然而,这些数据中没有母体基因型效应或显著的母源遗传效应的证据。这些结果表明,IRF6 基因可能通过与中国人群中多种维生素补充剂和 ETS 的相互作用影响 CL/P 的风险。

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