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本文引用的文献

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Use of folic acid supplements and risk of cleft lip and palate in infants: a population-based cohort study.叶酸补充剂的使用与婴儿唇腭裂风险：基于人群的队列研究。
Br J Gen Pract. 2012 Jul;62(600):e466-72. doi: 10.3399/bjgp12X652328.
2
Toward a roadmap in global biobanking for health.迈向全球健康生物库的路线图。
Eur J Hum Genet. 2012 Nov;20(11):1105-11. doi: 10.1038/ejhg.2012.96. Epub 2012 Jun 20.
3
Application of a novel hybrid study design to explore gene-environment interactions in orofacial clefts.一种新型混合研究设计在探索口腔颌面裂隙基因-环境相互作用中的应用。
Ann Hum Genet. 2012 May;76(3):221-36. doi: 10.1111/j.1469-1809.2012.00707.x.
4
Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies.严格的回顾性协调是否可行？DataSHaPER 方法在 53 项大型研究中的应用。
Int J Epidemiol. 2011 Oct;40(5):1314-28. doi: 10.1093/ije/dyr106. Epub 2011 Jul 30.
5
Towards a data sharing Code of Conduct for international genomic research.迈向国际基因组研究数据共享行为准则。
Genome Med. 2011 Jul 14;3(7):46. doi: 10.1186/gm262.
6
Invited commentary: consolidating data harmonization--how to obtain quality and applicability?特邀评论：整合数据协调——如何获得质量和适用性？
Am J Epidemiol. 2011 Aug 1;174(3):261-4; author reply 265-6. doi: 10.1093/aje/kwr194. Epub 2011 Jul 11.
7
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.全基因组研究非综合征性腭裂的基因-环境相互作用证据。
Genet Epidemiol. 2011 Sep;35(6):469-78. doi: 10.1002/gepi.20595. Epub 2011 May 26.
8
Maternal malnutrition, environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts.母体营养不良、孕期环境暴露与非综合征性口腔颌面裂风险的关系。
Oral Dis. 2011 Sep;17(6):584-9. doi: 10.1111/j.1601-0825.2011.01810.x. Epub 2011 Apr 28.
9
Cleft lip and palate: understanding genetic and environmental influences.唇腭裂：了解遗传和环境的影响。
Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933.
10
Effects and safety of periconceptional folate supplementation for preventing birth defects.孕前补充叶酸预防出生缺陷的效果与安全性。
Cochrane Database Syst Rev. 2010 Oct 6(10):CD007950. doi: 10.1002/14651858.CD007950.pub2.

叶酸补充剂的使用与口腔颌面部裂隙病因中的亚甲基四氢叶酸还原酶（MTHFR）C677T多态性：个体参与者数据汇总分析。

Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis.

作者信息

Butali Azeez, Little Julian, Chevrier Cécile, Cordier Sylvian, Steegers-Theunissen Regine, Jugessur Astanand, Oladugba Bola, Mossey Peter A

机构信息

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

出版信息

Birth Defects Res A Clin Mol Teratol. 2013 Aug;97(8):509-14. doi: 10.1002/bdra.23133. Epub 2013 May 13.

DOI:10.1002/bdra.23133
PMID:23670871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3745533/
Abstract

BACKGROUND

This study examines gene-environment interaction between the MTHFR C667T polymorphism and folic acid in the etiology of orofacial clefts (OFC). We used a pooled-analytical approach on four studies that used similar methods.

METHODS

We used logistic regression to analyze the pooled sample of 1149 isolated cases and 1161 controls. Fetal and maternal MTHFR C677T genotypes, and maternal periconceptional exposure to smoking, alcohol, vitamin containing folic acid and folic acid supplements were contrasted between the cleft types [non-syndromic clefts lip or without cleft palate (CL(P)) and non-syndromic cleft palate (CP)] and control groups.

RESULTS

There was a reduced risk of CL(P) with maternal folic acid use (p = 0.008; OR = 0.70, 95% CI: 0.65-0.94) and with supplements containing folic acid (p = 0.028, OR = 0.80, 95% CI: 0.65-0.94). Maternal smoking increased the risk of both CL(P) (p < 10 e-3; OR = 1.62, 95% CI: 1.35-1.95) and CP (p = 0.028; OR = 1.38, 95% CI: 1.04-1.83). No significant risk was observed with either maternal or fetal MTHFR C677T genotypes.

CONCLUSION

This individual participant data (IPD) meta-analysis affords greater statistical power and can help alleviate the problems associated with aggregate-level data-sharing. The result of this IPD meta-analysis is consistent with previous reports suggesting that folic acid and smoking influence OFC outcomes.

摘要

背景

本研究探讨亚甲基四氢叶酸还原酶（MTHFR）C667T基因多态性与叶酸在口腔颌面裂（OFC）病因学中的基因 - 环境相互作用。我们对四项采用相似方法的研究进行了汇总分析。

方法

我们使用逻辑回归分析了1149例孤立病例和1161例对照的汇总样本。对比了唇裂（CL(P)）和腭裂（CP）类型与对照组之间胎儿和母亲的MTHFR C677T基因型，以及母亲受孕前吸烟、饮酒、摄入含叶酸的维生素和叶酸补充剂的情况。

结果

母亲使用叶酸（p = 0.008；比值比[OR] = 0.70，95%置信区间[CI]：0.65 - 0.94）和摄入含叶酸补充剂（p = 0.028，OR = 0.80，95% CI：0.65 - 0.94）可降低CL(P)的风险。母亲吸烟会增加CL(P)（p < 10 e - 3；OR = 1.62，95% CI：1.35 - 1.95）和CP（p = 0.028；OR = 1.38，95% CI：1.04 - 1.83）的风险。未观察到母亲或胎儿的MTHFR C677T基因型有显著风险。

结论

这项个体参与者数据（IPD）荟萃分析提供了更大的统计效力，并有助于缓解与汇总水平数据共享相关的问题。该IPD荟萃分析的结果与先前的报告一致，表明叶酸和吸烟会影响OFC的结局。