一般产妇用药、叶酸、MDR1 C3435T 多态性与先天性心脏病患儿风险的关系。
General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect.
机构信息
Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynecology, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.
出版信息
Am J Obstet Gynecol. 2011 Mar;204(3):236.e1-8. doi: 10.1016/j.ajog.2010.10.911. Epub 2010 Dec 22.
OBJECTIVE
We sought to investigate maternal and child functional MDR1 C3435T polymorphism, periconception medication, folic acid use, and the risk of a congenital heart defect (CHD) in the offspring.
STUDY DESIGN
MDR1 3435C>T genotyping was performed in 283 case triads (mother, father, child) and 308 control triads. Information on periconception medication and folic acid use was obtained through questionnaires.
RESULTS
Mothers with MDR1 3435CT/TT genotype and using medication showed a significant association with the risk of a child with CHD (odds ratio [OR], 2.4; 95% confidence interval [CI], 1.3-4.3) compared to mothers with MDR1 3435CC genotype not using medication. This risk increased without folic acid use (OR, 2.8; 95% CI, 1.2-6.4), and decreased in folic acid users (OR, 1.7; 95% CI, 0.8-3.7). Children carrying the MDR1 3435CT/TT genotype and periconceptionally exposed to medication without folic acid did not show significant risks.
CONCLUSION
Mothers carrying the MDR1 3435T allele, using medication without folic acid, are at nearly 3-fold increased risk for CHD in the offspring.
目的
我们旨在研究母体和儿童功能性多药耐药基因 1（MDR1）C3435T 多态性、围孕期用药、叶酸使用与子女先天性心脏病（CHD）风险之间的关系。
研究设计
对 283 例病例三（母亲、父亲、孩子）和 308 例对照三进行 MDR1 3435C>T 基因分型。通过问卷调查获取围孕期用药和叶酸使用信息。
结果
与未使用药物的 MDR1 3435CC 基因型母亲相比，携带 MDR1 3435CT/TT 基因型且使用药物的母亲所生孩子患 CHD 的风险显著增加（比值比[OR]，2.4；95%置信区间[CI]，1.3-4.3）。在未使用叶酸的情况下，这种风险增加（OR，2.8；95% CI，1.2-6.4），而在使用叶酸的情况下则降低（OR，1.7；95% CI，0.8-3.7）。未携带 MDR1 3435CT/TT 基因型且围孕期暴露于药物但未使用叶酸的儿童未显示出显著风险。
结论
携带 MDR1 3435T 等位基因、未使用叶酸且围孕期用药的母亲，其子女患 CHD 的风险增加近 3 倍。
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