先天性心脏缺陷、母体同型半胱氨酸、吸烟与亚甲基四氢叶酸还原酶基因677 C>T多态性：评估基因-环境相互作用
Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions.
作者信息
Hobbs Charlotte A, James S Jill, Jernigan Stefanie, Melnyk Stepan, Lu Yunxia, Malik Sadia, Cleves Mario A
机构信息
Department of Pediatrics, Arkansas Children's Hospital Research Institute, University of Arkansas for Medical Sciences, College of Medicine, Little Rock, AR, USA.
出版信息
Am J Obstet Gynecol. 2006 Jan;194(1):218-24. doi: 10.1016/j.ajog.2005.06.016.
OBJECTIVE
This study was undertaken to investigate the association between congenital heart defects (CHD), and maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism.
STUDY DESIGN
Plasma homocysteine concentrations, smoking status, and MTFHR 677 genotypes were determined in 275 white women who had pregnancies affected by CHDs and 118 white women who had a normal pregnancy.
RESULTS
Homocysteine concentrations were significantly higher among women who had affected pregnancies (P < .0001). The highest estimated risk for having a CHD-affected pregnancy was among women who were smokers, were in the highest quartile for homocysteine, and had the MTHFR 677 CC genotype (odds ratio [OR] 11.8; 95% CI 2.6-53.3).
CONCLUSION
Many CHDs are due to a complex interaction between lifestyle factors and genetic susceptibilities. Our results suggest that the combined effect of elevations in maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism increase the risk of having a CHD-affected pregnancy.
目的
本研究旨在调查先天性心脏病（CHD）与母体同型半胱氨酸、吸烟及亚甲基四氢叶酸还原酶（MTHFR）677 C>T多态性之间的关联。
研究设计
测定了275名妊娠合并先天性心脏病的白人女性及118名正常妊娠的白人女性的血浆同型半胱氨酸浓度、吸烟状况及MTHFR 677基因型。
结果
妊娠合并先天性心脏病的女性同型半胱氨酸浓度显著更高（P <.0001）。妊娠合并先天性心脏病风险最高的是吸烟、同型半胱氨酸处于最高四分位数且具有MTHFR 677 CC基因型的女性（优势比[OR] 11.8；95%可信区间2.6 - 53.3）。
结论
许多先天性心脏病是由生活方式因素与遗传易感性之间的复杂相互作用所致。我们的结果表明，母体同型半胱氨酸升高、吸烟及MTHFR 677 C>T多态性的综合作用增加了妊娠合并先天性心脏病的风险。
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