相关实验视频

Updated: Jun 20, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

全基因组关联元分析确定了与产后出血相关的五个位置

David Westergaard^1,2,3, Valgerdur Steinthorsdottir⁴, Lilja Stefansdottir⁴

¹Department of Obstetrics and Gynaecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.

Nature genetics

|July 22, 2024

概括

产后出血 (PPH) 与孕激素信号问题有关,通过遗传分析确定. 怀孕早期的出血似乎很复杂,可能受到遗传学和整体健康的影响.

科学领域:

遗传学和妇产科的研究
生殖健康研究生殖健康研究

背景情况:

怀孕早期的出血和产后出血 (PPH) 对孕产妇和胎儿的健康构成重大风险.
在全球范围内,PPH是孕产妇死亡的主要原因.
早期怀孕出血与怀孕流产有关.

研究的目的:

调查PPH和早期妊娠出血的遗传基础.
识别与PPH相关的遗传位置和候选基因.
探索这些出血条件和其他特征之间的遗传相关性.

主要方法:

进行了一项元分析,以确定与PPH相关的遗传位置.
在候选基因上进行了功能注释分析.
评估了与出生体重和妊娠时间等特征的遗传相关性.

主要成果:

五个基因位置与PPH相关,确定了候选基因HAND2,TBX3和RAP2C/FRMD7.
相关的PPH变体位于孕激素受体结合部位内.
早期妊娠出血没有显示出全基因组关联信号,但与各种特征有很强的遗传相关性,这表明多基因基础.

结论:

PPH可能与孕激素信号失调有关.
妊娠早期出血是一种复杂的特征,受多种因素的影响,包括潜在的未识别的遗传元素.
这些发现突出了PPH和早期妊娠出血的独特遗传病因.

更多相关视频

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

相关概念视频

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...