胎儿基因组预测出生体重和多囊性卵巢综合征在晚年生活:一个门德尔的随机化研究
Dong Liu1, Yuexin Gan1, Yue Zhang2
1Ministry of Education and Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Frontiers in endocrinology
|June 23, 2023
概括
这项研究发现,胎儿基因组预测的出生体重和多囊性卵巢综合征 (PCOS) 风险之间没有因果关系. 观察到的关联很可能是由于共同的遗传因素,而不是出生体重对PCOS发展的直接因果关系.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 遗传学 是一个遗传学.
- 流行病学 流行病学
背景情况:
- 观察性研究表明,出生体重较低与多囊性卵巢综合征 (PCOS) 风险增加之间存在联系.
- 这种关联的因果性仍然不清楚,需要进一步调查.
研究的目的:
- 调查胎儿基因组决定的出生体重与患PCOS的风险之间的潜在因果关系.
- 区分直接的因果关系和共同的遗传影响.
主要方法:
- 两个样本的门德尔随机化 (MR) 分析使用大规模的全基因组关联研究 (GWAS) 数据用于出生体重 (n=406,063) 和PCOS (4,138例,20,129例对照).
- 二次性MR分析,不包括母体传播/非传播的遗传变异.
- 链接不平衡得分回归 (LDSR) 来估计遗传相关性.
主要成果:
- 在初级 (OR:0.86,95% CI:0.52-1.43) 和二级 (OR:0.86,95% CI:0.54-1.39) MR分析中,很少有证据支持胎儿基因组确定出生体重对PCOS风险的因果关系.
- 在出生体重和PCOS之间观察到微显的负遗传相关性 (r_g = -0.14).
结论:
- 观察到的出生体重与PCOS风险之间的关联不太可能是因果关系的.
- 研究结果表明,胎儿基因组独立地影响出生体重和PCOS风险,这可能解释了这种关联.
相关概念视频
Regression Toward the Mean
6.3K
Regression toward the mean (“RTM”) is a phenomenon in which extremely high or low values—for example, and individual’s blood pressure at a particular moment—appear closer to a group’s average upon remeasuring. Although this statistical peculiarity is the result of random error and chance, it has been problematic across various medical, scientific, financial and psychological applications. In particular, RTM, if not taken into account, can interfere when...
6.3K
Polygenic Traits
66.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
66.0K
Genomic Imprinting and Inheritance
34.7K
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...
34.7K
Human Genetics
625
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...
625
Oogenesis
63.9K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.9K
Nondisjunction
3.9K
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...
3.9K


