在一项双胞胎研究中,视瘤接口异常的流行,一致性和遗传性
Zakariya A Jarrar1,2, Abdus Samad Ansari1,2, Katie M Williams1,2
1Section of Ophthalmology, King's College London, London, England, United Kingdom.
Investigative ophthalmology & visual science
|July 10, 2023
概括
常见的玻璃瘤接口异常,如视网膜和后玻璃体脱落,是遗传的. 这项双胞胎研究发现了重要的遗传成分,这表明对涉及的基因和途径的进一步研究是有必要的.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 视网膜疾病 视网膜疾病
背景情况:
- 玻璃瘤接口 (VMI) 异常是常见的视网膜疾病.
- 对VMI异常的遗传贡献尚未得到充分理解.
- 常见的VMI异常包括视网膜膜 (ERM),后部玻璃体脱落 (PVD) 和黄斑孔.
研究的目的:
- 为了确定常见的VMI异常的患病率和遗传性.
- 评估单胞胎双胞胎和双胞胎双胞胎双胞胎之间的具体情况一致性.
- 调查影响VMI异常的遗传因素.
主要方法:
- 采用了经典的双胞胎研究设计.
- 包括来自TwinsUK队列的40岁以上的3406名参与者.
- 用光谱域光连贯性断层扫描 (SD-OCT) 来诊断VMI异常,使用结构方程建模估计遗传性.
主要成果:
- 患病率为:ERM 15.6%,PVD 21.3%和VMA 11.8%,其中包括:
- 与双胞胎双胞胎相比,单胞胎双胞胎对所有VMI异常的一致性更高.
- 估计ERM的遗传率为38.9%,PVD为53.2%,VMA为48.1%.
结论:
- 常见的VMI异常具有显著的遗传成分.
- 遗传因素在这些疾病的发病过程中起着至关重要的作用.
- 建议进行进一步的遗传研究,包括GWAS,以确定涉及的特定基因和途径.
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...


