NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.
NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.
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DOI：
10.1002/bdra.20745
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发表时间：
2011-01
影响因子：
--
通讯作者：
Goldmuntz, Elizabeth
中科院分区：
文献类型：
--
作者：
Lupo, Philip J.;Mitchell, Laura E.;Goldmuntz, Elizabeth
虽然先天性心脏病（CHD）是一种常见且严重的出生缺陷，但对这些疾病的原因知之甚少，也没有既定的预防策略。然而，有证据表明，CHD的风险，特别是圆锥动脉干和相关缺陷（CTRD），可能与母体叶酸状态和叶酸相关基因的遗传变异有关。尽管已经研究了几种叶酸相关基因，因为它们与CHD和CTRD相关（例如，MTHFR），其他尚未得到充分评估。使用对数线性分析来检查病例-父母三联体，以评估CTRD与病例遗传的基因型和以下变体的母体基因型之间的关联：NAT 1 1095 C>A、N 0 S3 894 G>T和TYMS 1494 del 6。还对典型圆锥动脉干缺损病例和正常相关大动脉病例进行了亚组分析。结果几乎没有证据表明CTRD风险与病例所遗传的任何分析变异的基因型相关。然而，我们的研究结果表明CTRD风险可能与NOS 3 894 G>T（在正常相关大动脉亚组中p = 0.024）和TYMS 1494 del 6（在典型圆锥动脉干缺陷亚组中p = 0.048）的母体基因型相关。然而，在校正多重比较后，这些结果并不显著。这项研究提供了进一步的证据表明，CTRD风险可能与叶酸途径基因内的变异有关，并表明这些关联至少部分是通过母体基因型介导的。
Although congenital heart defects (CHDs) are a common and serious group of birth defects, relatively little is known about the causes of these conditions, and there are no established prevention strategies. There is, however, evidence suggesting that the risk of CHDs in general, and conotruncal and related defects (CTRDs) in particular, may be associated with maternal folate status and genetic variants of folate-related genes. Although several folate-related genes have been studied as they relate to CHDs and CTRDs (e.g., MTHFR), others have not been adequately assessed. Case-parent triads were examined using log-linear analyses to assess the associations between CTRDs and both the genotype inherited by the case and the maternal genotype for the following variants: NAT1 1095C>A, NOS3 894G>T, and TYMS 1494del6. Subgroup analyses were also conducted among cases with classic conotruncal defects and cases with normally related great arteries. The results provided little evidence that CTRD risk was associated with the genotype inherited by the case for any of the analyzed variants. However, our results suggest that CTRD risk may be associated with the maternal genotype for NOS3 894G>T (p = 0.024 in the subgroup with normally related great arteries) and TYMS 1494del6 (p = 0.048 in the subgroup with classic conotruncal defects). However, these results were not significant after correcting for multiple comparisons. This study provides further evidence that CTRD risk may be related to variation within folate-pathway genes and suggests that these associations are, at least in part, mediated through the maternal genotype.
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