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首页> 外文期刊>Health services & outcomes research methodology >Genes as instruments for studying risk behavior effects: an application to maternal smoking and orofacial clefts
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Genes as instruments for studying risk behavior effects: an application to maternal smoking and orofacial clefts

机译：基因作为研究风险行为影响的工具：在孕产妇吸烟和口唇裂中的应用

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Abstract This study uses instrumental variable (IV) models with genetic instruments to assess the effects of maternal smoking on the child's risk of orofacial clefts (OFC), a common birth defect. The study uses genotypic variants in neurotransmitter and detoxification genes relateded to smoking as instruments for cigarette smoking before and during pregnancy. Conditional maximum likelihood and two-stage IV probit models are used to estimate the IV model. The data are from a population-level sample of affected and unaffected children in Norway. The selected genetic instruments generally fit the IV assumptions but may be considered "weak" in predicting cigarette smoking. We find that smoking before and during pregnancy increases OFC risk substantially under the IV model (by about 4-5 times at the sample average smoking rate). This effect is greater than that found with classical analytic models. This may be because the usual models are not able to consider self-selection into smoking based on unobserved confounders, or it may to some degree reflect limitations of the instruments. Inference based on weak-instrument robust confidence bounds is consistent with standard inference.
机译：摘要这项研究使用具有遗传工具的工具变量（IV）模型来评估孕妇吸烟对儿童常见的先天缺陷口面部裂隙（OFC）风险的影响。该研究使用与吸烟有关的神经递质和排毒基因的基因型变异作为怀孕前和怀孕期间吸烟的工具。使用条件最大似然和两阶段IV概率模型来估计IV模型。数据来自挪威受影响和未受影响儿童的人口水平样本。所选的遗传工具通常符合IV假设，但在预测吸烟方面可能被认为“弱”。我们发现，在IV模型下，怀孕之前和怀孕期间吸烟会大大增加OFC风险（以样本平均吸烟率计算约为4-5倍）。该效果大于经典分析模型中的效果。这可能是因为常规模型无法基于未观察到的混杂因素考虑自行选择吸烟，或者可能在某种程度上反映了仪器的局限性。基于弱仪器鲁棒置信区间的推理与标准推理是一致的。

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