全基因组协会研究确定了中国预孕妇女中叶酸相关生物标志物的遗传多态性
Qinyu Yao1, Xiaotian Chen2, Yi Zhang2
1Pediatric Heart Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China; Research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases (2018RU002), Chinese Academy of Medical Sciences, Beijing, China; Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
The Journal of nutrition
|October 7, 2024
概括
这项研究确定了影响中国妇女准备怀孕的叶酸和维生素B-12水平的关键遗传变异 (SNP). 该MTHFR rs1801133变体显著影响红细胞叶酸和同型半氨酸水平.
科学领域:
- 营养基因组学 营养基因组学
- 生殖健康 生殖健康
- 人类遗传学 人类遗传学
背景情况:
- 叶酸状况和单核酸多态 (SNP) 频率在各族群之间有很大的差异.
- 关于SNP影响中国生育年龄妇女的叶酸相关生物标志物的数据有限.
研究的目的:
- 为了识别与红细胞 (RBC) 叶酸,血清叶酸,维生素B-12和同氨酸度相关的单核酸多态 (SNPs).
- 在中国女性预孕人口中调查这些关联.
主要方法:
- 一项全基因组关联研究 (GWAS) 对来自上海预孕队列的1000名中国妇女进行.
- 使用Illumina芯片进行了单核酸多态 (SNP) 基因型鉴定.
- 使用线性回归模型分析了SNP和生物标志物之间的关联,全基因组显著性设置为P < 10-7 .
主要成果:
- MTHFR rs1801133 SNP是红细胞叶酸,血清叶酸和同类蛋白水平的主要贡献者.
- FUT2 rs1047781是维生素B-12的主要变体.
- 其他显著的SNP包括血清叶酸的NTRK2中的rs147162222和homocysteine的rs77025184.
结论:
- 这个GWAS是第一个在中国孕前妇女中检查叶酸相关的生物标志物.
- 已识别的关键SNP,如MTHFR rs1801133和FUT2 rs1047781,显示出特定群体的关联.
- 这些发现突出了在这个人群中对叶酸代谢和维生素B-12状况的独特遗传影响.
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