Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynecology, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.
Am J Obstet Gynecol. 2011 Mar;204(3):236.e1-8. doi: 10.1016/j.ajog.2010.10.911. Epub 2010 Dec 22.
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.
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.
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.
Mothers carrying the MDR1 3435T allele, using medication without folic acid, are at nearly 3-fold increased risk for CHD in the offspring.
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。
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。
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。
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。
