肝硬化中的遗传变异:临床实践的分类,机制和影响
Roshni Pushpa Raghavan1, Kirti Theresa Alexander1, Shine Sadasivan2
1Department of Pharmacy Practice, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Kochi 682041, India.
Journal of personalized medicine
|January 27, 2026
概括
遗传变异显著影响肝硬化风险和各种肝病的进展. 了解这些遗传因素,如PNPLA3和TM6SF2,有助于对慢性肝损伤患者进行个性化风险评估和管理策略.
科学领域:
- 遗传学 是一个遗传学.
- 肝病学 肝病学是一种肝病学.
- 内部医学 内部医学
背景情况:
- 肝硬化是各种原因导致的慢性肝损伤的末期阶段.
- 疾病进展的个体差异表明基因对易感性和结果的影响.
研究的目的:
- 审查遗传变异如何影响肝硬化风险,进展和表型.
- 综合既定和新兴的基因关联及其临床相关性.
主要方法:
- 对2005-2025年文献的叙事综述.
- 搜索了主要的生物医学数据库 (PubMed,Scopus,科学网,谷歌学者).
- 专注于与肝硬化及其亚型相关的遗传多态性.
主要成果:
- 遗传变异通过代谢调节,免疫调节,肝酶活性和祖先影响肝硬化.
- 主要变体 (PNPLA3,TM6SF2,HSD17B13,MBOAT7) 讨论了MASLD/MASH,病毒性肝炎,与酒精有关的肝病和自身免疫性疾病.
结论:
- 遗传洞察力可以改善早期风险分层和个性化肝硬化管理.
- 多基因风险评分和多基因整合需要进一步验证以供临床使用.
相关概念视频
Histone Variants at the Centromere
5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Classification of Neurotransmitters
5.3K
Neurotransmitters play a crucial role in the communication between neurons in the autonomic nervous system. Neurons in the autonomic nervous system can be cholinergic or adrenergic depending on the neurotransmitters synthesized. Cholinergic neurons use acetylcholine as their primary neurotransmitter. This includes all the preganglionic fibers of the sympathetic and pre- and postganglionic fibers of the parasympathetic nervous systems. In addition, neurons of the somatic nervous system also use...
5.3K
Classification of Leukocytes
5.7K
Leukocytes are classified into two groups based on the presence or absence of cytoplasmic granules. Granular leukocytes, which contain granules, belong to the myeloid lineage and are divided into three subtypes: neutrophils, eosinophils, and basophils. These cells are roughly spherical and characterized by the granules in their cytoplasm.
Neutrophils are the most abundant type of granular leukocytes, comprising 50-70% of all leukocytes. They feature small, evenly distributed granules and a...
Neutrophils are the most abundant type of granular leukocytes, comprising 50-70% of all leukocytes. They feature small, evenly distributed granules and a...
5.7K
Classification of Bones
9.8K
The bones of the human skeletal system are of varied shapes, sizes, and functions. They can be classified based on their shape and function into four major classes: long bones, short bones, flat bones, and irregular bones. Some classifications include a fifth type, the sesamoid bones, as a separate class, whereas others categorize them under short bones.
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
Long and Short Bones
The appendicular skeleton, particularly the upper and lower limbs, is primarily made of long and short bones. The...
9.8K
Force Classification
2.4K
Forces play a crucial role in the study of physics and engineering. They are essential in describing the motion, behavior, and equilibrium of objects in the physical world. Forces can be classified based on their origin, type, and direction of action.
Contact and non-contact forces are two of the most widely used categories of forces. As the name suggests, contact forces require physical contact between two objects to act upon each other. Examples of contact forces include frictional,...
Contact and non-contact forces are two of the most widely used categories of forces. As the name suggests, contact forces require physical contact between two objects to act upon each other. Examples of contact forces include frictional,...
2.4K
Classification of Illness
8.7K
The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
8.7K


