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首页> 外文期刊>DNA and Cell Biology >Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population.
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Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population.

机译：在西汉族人群中，ZNF533的多态性与环境因素和非综合征性口面部裂隙之间存在关联的重要证据。

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摘要

The etiology of nonsyndromic orofacial clefts (NSOC) has been considered "complex" or "multifactorial." Etiologic heterogeneity induces disparities in the results among different populations. The zinc finger protein 533 (ZNF533) and several environmental factors have been revealed to be associated with NSOC in several populations. We investigated three single-nucleotide polymorphisms (SNPs) and 10 environmental factors in 211 case-parent trios and 188 control individuals in the Western Han Chinese population to confirm the relationship between ZNF533, environmental factors, and the etiology of NSOC in the Western Han Chinese population. The transmission disequilibrium test, case-control analysis, multiple logistic regression, log-linear model, and conditional logistic regression were tested to confirm the contribution of the ZNF533 gene and environmental factors to the etiology of NSOC. Strong statistically significant evidence of association was found between the rs6757845 and rs1139 markers and NSOC. The haplotype G-G for rs6757845-rs1139 showed significant overtransmission among cleft lip with or without cleft palate (CL/P) trios and among cleft palate only trios. Additional 11 and 5 haplotypes were significantly overtransmitted and undertransmitted among CL/P and among cleft palate only trios, respectively. Maternal disease, use of medication, and passive smoking during the first trimester of pregnancy may increase the risk of NSOC. Maternal folic acid supplementation during the first trimester of pregnancy showed a protective effect on the etiology of NSOC. Genotype-environment interaction test showed a significant evidence of interaction effects between the genotypes at rs6757845 and maternal passive smoking during the first trimester among CL/P trios. These results confirm the effects of the ZNF533 gene and environmental factors on the etiology of NSOC.
机译：非综合征性口面部裂痕（NSOC）的病因被认为是“复杂的”或“多因素的”。病因异质性导致不同人群之间结果的差异。锌指蛋白533（ZNF533）和一些环境因素已被揭示与一些人群的NSOC相关。我们调查了西汉族人群中211个病例父母三重奏组和188个对照个体中的三个单核苷酸多态性（SNP）和10个环境因素，以确认ZNF533，环境因素与西汉族人群NSOC病因之间的关系人口。对传播不平衡测试，病例对照分析，多元逻辑回归，对数线性模型和条件逻辑回归进行了测试，以确认ZNF533基因和环境因素对NSOC病因的贡献。在rs6757845和rs1139标记与NSOC之间发现有关联的强有力的统计学上显着证据。 rs6757845-rs1139的单倍型G-G在具有或不具有left裂（CL / P）三重奏的only裂唇之间和仅pa裂三重奏中显示出明显的过度传递。在CL / P和仅c裂的三重奏中，另外的11和5个单倍型显着过度传递和传递不足。孕早期，孕产妇疾病，药物使用和被动吸烟可能会增加NSOC的风险。孕妇在孕早期补充叶酸对NSOC的病因有保护作用。基因型与环境的交互作用测试显示，在CL / P三人组中，前三个月的rs6757845基因型与孕妇被动吸烟之间的交互作用有重要证据。这些结果证实了ZNF533基因和环境因素对NSOC病因的影响。

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