在nulliparasas中与不良妊娠结果相关的遗传多态性
Raiyan R Khan1, Rafael F Guerrero2,3, Ronald J Wapner4
1Department of Computer Science, Columbia University, New York, NY, USA.
Scientific reports
|May 7, 2024
概括
这项研究确定了不良妊娠结果 (APO) 的新型遗传标记,包括怀孕流产和妊娠期糖尿病. 这些发现提升了对APO的理解.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 生殖医学 生殖医学
- 孕产妇和胎儿医学 孕产妇和胎儿医学
背景情况:
- 负面妊娠结果 (APO) 对全球母亲和婴儿发病率和死亡率做出了重大贡献.
- APO的潜在病理生理学在很大程度上是未知的,这阻碍了有效的预防和治疗策略.
- 遗传因素被怀疑在母亲对APO的敏感性中起作用.
研究的目的:
- 确定与四种不良妊娠结果相关的遗传风险标志物:妊娠流产,妊娠期长度,妊娠期糖尿病和妊娠前.
- 利用多祖先全基因组关联研究 (GWAS) 发现新的遗传关联.
主要方法:
- 进行了多祖先全基因组关联研究 (GWAS) 针对妊娠流产,妊娠时间长度,妊娠糖尿病和妊娠前症.
- 根据遗传血统将参与者分组成欧洲,非洲和混合美国子队伍,以进行集中分析.
- 在每个子队列中进行了关联测试,并进行了元分析以结合结果.
主要成果:
- 确定了两种与妊娠流产风险增加相关的新发位点 (TRMU和RGMA附近).
- 发现了两个与妊娠时间相关的新变异 (接近WFDC1和AC005052.1).
- 发现了三种与妊娠期糖尿病相关的新型位点 (接近ZBTB20,GUCY1A2和RPL7P20).
- 证实了14个先前确定的位置与相关的结局,如早产和孕前的联系.
结论:
- 这项GWAS元分析成功地确定了与不良妊娠结果相关的几个新的遗传位点.
- 这些发现为妊娠并发症的遗传结构提供了新的见解,为未来的研究铺平了道路.
- 对这些遗传标记物的进一步调查可能会导致更好的风险预测和针对APO的有针对性的干预措施.
相关概念视频
Teratogenicity
2.4K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.4K
Genomic Imprinting and Inheritance
34.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.3K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Single Nucleotide Polymorphisms-SNPs
15.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
Human Genetics
561
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
561
Nondisjunction
3.8K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.8K


