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Identification of risk factors for Down syndrome

识别唐氏综合症的危险因素

基本信息

批准号：
17590546
负责人：
TAKAMURA Noboru
金额：
$ 2.24万
依托单位：
Nagasaki University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17590546/
关键词：
Down syndrome Folate Homocysteine MTHFR gene MTHFR カザフスタン共和国

项目摘要

Down syndrome is the most frequent cause of mental retardation, and is one of the important issues in the area of maternal health. It has been recently suggested that a C to T change at nucleotide 677 of MTHFR gene, which is associated with the folate metabolism, is linked to the increased risk of Down syndrome, due to the chromosomal instability by mile hyperhomocyteinmeia caused by relatively low folate status. In this research project, we conducted the molecular epidemiological study of Down syndrome, in combination with nutritional and clinical evaluation.This year, we analyzed samples collected normal group and the group with mother of Down syndrome from the Republic of Kazakhstan, where we recently reported as "folate deficient area". In normal group, there was no correlation between homocysteine and folate concentration after the adjustment for age. On the other hand, concentrations of homocysteine in T/T genotype were significantly higher than those of C/C and C/T genotypes. In addition to our previous results on the folate status in this area, our current results suggests that folate intake influence the association between MTHFR genotypes and homocysteine.Furthermore, w e compared the folate and homocysteine concentrations between control group and the group of Down syndrome, but there were no significant differences after the adjustment for age, which might be merely caused by the insufficient sample number of the group of Down syndrome. Further studies are needed in this area.

唐氏综合症是智力迟钝的最常见原因，也是孕产妇保健领域的重要问题之一。最近研究表明，MTHFR基因第677位核苷酸C → T的改变与叶酸代谢有关，这是由于相对低的叶酸水平引起的高同型半胱氨酸引起的染色体不稳定性导致的。本研究项目开展了唐氏综合征的分子流行病学研究，并结合营养学和临床评价，今年分析了从哈萨克斯坦共和国采集的正常组和唐氏综合征母亲组的样本，该地区最近被报道为“叶酸缺乏地区”。在正常组中，校正年龄因素后，同型半胱氨酸与叶酸浓度无相关性。T/T基因型血浆同型半胱氨酸浓度显著高于C/C和C/T基因型。除了我们以前的研究结果在这方面，我们目前的研究结果表明，叶酸摄入量影响MTHFR基因型和同型半胱氨酸之间的关联。此外，我们比较了对照组和唐氏综合征组的叶酸和同型半胱氨酸浓度，但在调整年龄后没有显着差异。这可能仅仅是由于唐氏综合征组样本数不足所致。在这方面需要进一步的研究。