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加拿大因纽特人的先天性心脏缺陷:更多的叶酸会有作用吗?

Congenital heart defects in Canadian Inuit: is more folic acid making a difference?

作者信息

Arbour L, Rupps R, MacDonald S, Forth M, Yang J, Nowdluk M, Osborne G

机构信息

Dept of Medical Genetics, University of British Columbia.

出版信息

Alaska Med. 2007;49(2 Suppl):163-6.

Abstract

INTRODUCTION

Grain fortification of flour with folic acid has successfully reduced neural tube defects (NTDs) by approximately one half of the pre-fortification rate. The knowledge that the use of multivitamins with folic acid has also been shown to reduce some birth defects has prompted interest in determining whether folic acid may also play a role in the prevention of non-neural tube defects. Although NTDs are not more frequent in the Inuit of the Eastern Arctic, septal heart defects, were documented pre-fortification (1989-1994) to be increased 4 fold.

OBJECTIVES

To determine if current efforts of fortification are sufficient and to explore other genetic/ environmental determinants of the increased rate of septal heart defects in the Eastern Arctic.

METHODS

Inuit mothers of children from communities on Baffin Island with and without heart defects were invited to participate in a case control study evaluating nutrient intake, pregnancy exposures, RBC folate, serum cobalamin, homocysteine, and functional polymorphisms for genes important in folate metabolism and uptake.

RESULTS

41 children with isolated heart defects and their mothers with 36 community matched Inuit controls have entered the study to date.

RESULTS

There were no differences in RBC folate (953 Vs 922 nmol/L p = .49), serum cobalamin, and homocysteine, between mothers of cases and controls. The combined average RBC folate for the women ages 18-45 was 947 +/- 32 nmol/L. There was no difference between any documented alcohol (H"30%) and cigarette (H"82%) use in pregnancy. No Inuit women were taking vitamins at conception or at the time of this study. The results of the genetic studies will be reported elsewhere.

CONCLUSIONS

RBC folate (post-fortification) in our sample of women of childbearing years is reassuring. However, it is possible that pre-fortification levels combined with genetic predisposition may have previously influenced the high rate of heart defects. Follow-up study is underway to determine if rates of heart defects have decreased since fortification was commenced. Since folate alone may not be sufficient to reduce non-neural tube defects, culturally appropriate public health efforts need to be initiated to encourage multivitamin use periconceptionally.

摘要

引言

用叶酸对面粉进行谷物强化已成功将神经管缺陷(NTDs)的发生率降低至强化前水平的约一半。已知使用含叶酸的多种维生素也能减少一些出生缺陷,这引发了人们对于确定叶酸是否也能在预防非神经管缺陷中发挥作用的兴趣。尽管在北极东部的因纽特人中神经管缺陷并不更常见,但在强化前(1989 - 1994年)记录到室间隔心脏缺陷增加了4倍。

目的

确定当前的强化努力是否足够,并探索北极东部室间隔心脏缺陷发生率增加的其他遗传/环境决定因素。

方法

邀请巴芬岛有心脏缺陷和无心脏缺陷社区儿童的因纽特母亲参与一项病例对照研究,评估营养摄入、孕期暴露情况、红细胞叶酸、血清钴胺素、同型半胱氨酸以及叶酸代谢和摄取中重要基因的功能多态性。

结果

截至目前,41名患有孤立性心脏缺陷的儿童及其母亲与36名社区匹配的因纽特对照已进入该研究。

结果

病例组和对照组母亲的红细胞叶酸(953对922纳摩尔/升,p = 0.49)、血清钴胺素和同型半胱氨酸没有差异。18 - 45岁女性的红细胞叶酸综合平均水平为947±32纳摩尔/升。孕期任何已记录的酒精使用(>30%)和香烟使用(>82%)情况均无差异。没有因纽特女性在受孕时或本研究期间服用维生素。基因研究结果将在其他地方报告。

结论

我们样本中育龄妇女的红细胞叶酸(强化后)情况令人安心。然而,强化前水平与遗传易感性相结合可能此前影响了心脏缺陷的高发生率。正在进行后续研究以确定自开始强化以来心脏缺陷发生率是否有所下降。由于仅叶酸可能不足以减少非神经管缺陷,需要开展适合当地文化的公共卫生努力以鼓励在受孕前后使用多种维生素。

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