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本文引用的文献

1
Variants of folate metabolism genes and the risk of conotruncal cardiac defects.叶酸代谢基因变异与圆锥动脉干心脏缺陷的风险
Circ Cardiovasc Genet. 2008 Dec;1(2):126-32. doi: 10.1161/CIRCGENETICS.108.796342. Epub 2008 Dec 9.
2
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.118个叶酸相关基因单核苷酸多态性与脊柱裂和圆锥动脉干心脏缺陷的风险
BMC Med Genet. 2009 Jun 3;10:49. doi: 10.1186/1471-2350-10-49.
3
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.遗传性非息肉病性结直肠癌中MTHFR 677 C>T和1298 A>C多态性与结直肠癌发病年龄的关系
Eur J Hum Genet. 2009 May;17(5):629-35. doi: 10.1038/ejhg.2008.239. Epub 2009 Jan 21.
4
A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate.二氢叶酸还原酶中一个19个碱基对的缺失多态性与血浆中未代谢叶酸增加及红细胞叶酸减少有关。
J Nutr. 2008 Dec;138(12):2323-7. doi: 10.3945/jn.108.096404.
5
Population stratification bias in the case-only study for gene-environment interactions.基因-环境相互作用的病例对照研究中的人群分层偏倚。
Am J Epidemiol. 2008 Jul 15;168(2):197-201. doi: 10.1093/aje/kwn130. Epub 2008 May 22.
6
Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations.胱硫醚β-合酶844ins68和亚甲基四氢叶酸还原酶677C>T基因多态性对叶酸和同型半胱氨酸浓度的影响。
Eur J Hum Genet. 2008 Aug;16(8):1010-3. doi: 10.1038/ejhg.2008.69. Epub 2008 Apr 9.
7
Multifactor dimensionality reduction-phenomics: a novel method to capture genetic heterogeneity with use of phenotypic variables.多因素降维-表型组学：一种利用表型变量捕捉遗传异质性的新方法。
Am J Hum Genet. 2007 Dec;81(6):1251-61. doi: 10.1086/522307. Epub 2007 Oct 23.
8
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.寻找病因：病因学研究中先天性心脏病的分类与评估
Birth Defects Res A Clin Mol Teratol. 2007 Oct;79(10):714-27. doi: 10.1002/bdra.20403.
9
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.先天性心脏病的遗传基础：当前认知：美国心脏协会先天性心脏缺陷委员会、青少年心血管疾病理事会的科学声明：获美国儿科学会认可
Circulation. 2007 Jun 12;115(23):3015-38. doi: 10.1161/CIRCULATIONAHA.106.183056. Epub 2007 May 22.
10
Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.非遗传性危险因素与先天性心血管缺陷：当前认识：美国心脏协会青年心血管疾病委员会的科学声明：获美国儿科学会认可
Circulation. 2007 Jun 12;115(23):2995-3014. doi: 10.1161/CIRCULATIONAHA.106.183216. Epub 2007 May 22.

叶酸代谢途径中的基因-基因相互作用与圆锥动脉干心脏缺陷风险

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.

作者信息

Lupo Philip J, Goldmuntz Elizabeth, Mitchell Laura E

机构信息

Human Genetics Center, Division of Epidemiology and Disease Control, The University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA.

出版信息

J Biomed Biotechnol. 2010;2010:630940. doi: 10.1155/2010/630940. Epub 2010 Jan 12.

DOI:10.1155/2010/630940
PMID:20111745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2810479/
Abstract

Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent triads (n = 727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes. Analyses of inherited genotypes were consistent with the previously reported association between MTHFR A1298C and CTRD (adjusted P = .02), but provided no evidence that CTRD was associated with inherited gene-gene interactions. Analyses of the maternal genotypes provided evidence of a MTHFR C677T/CBS 844ins68 interaction and CTRD risk (unadjusted P = .02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.

摘要

圆锥动脉干及相关心脏缺陷（CTRD）是常见的复杂畸形。尽管已确定的风险因素较少，但有证据表明叶酸代谢途径中的基因变异会影响CTRD风险。本研究旨在评估该途径中遗传（即病例）和母体基因-基因相互作用与CTRD风险之间的关联。从费城儿童医院确定的病例-父母三联体（n = 727）对9个叶酸代谢基因的10个功能变体进行了基因分型。对遗传基因型的分析与先前报道的MTHFR A1298C与CTRD之间的关联一致（校正P = 0.02），但没有证据表明CTRD与遗传基因-基因相互作用有关。对母体基因型的分析提供了MTHFR C677T/CBS 844ins68相互作用与CTRD风险的证据（未校正P = 0.02）。这种关联与该基因型组合对叶酸-同型半胱氨酸生物化学的影响一致，但仍有待在独立研究人群中得到证实。