人类头发特征GWAS的全面审查
Carli D Needle1, Anna L Brinks1, Olivia D Perez1
1The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, New York, USA.
The Journal of investigative dermatology
|August 19, 2025
概括
对头发特征的遗传研究为毛囊生物学和疾病提供了洞察力. 对普通头发特征的全基因组关联研究 (GWAS) 揭示了与特征和健康相关的遗传因素.
科学领域:
- 遗传学 遗传学 是一个
- 皮肤病学 皮肤病学
- 人类生物学 人类生物学
背景情况:
- 头发的特征是个人的常见的,非致病性变异.
- 毛囊疾病很罕见,限制了大规模的遗传研究.
- 常见的头发特征允许用于基因发现的大型队列构建.
研究的目的:
- 为了汇编发型特征的全基因组关联研究 (GWAS) 的发现.
- 通过特征遗传学增强对毛囊 (HF) 生物学的理解.
- 探索影响头发特征的遗传因素与与疾病有关的遗传因素之间的重叠.
主要方法:
- 对各种头发特征的现有GWAS数据的审查和编译.
- 分析与常见头发特征相关的遗传变异.
- 鉴定的遗传因素与已知的疾病相关基因进行比较.
主要成果:
- 关于头发特征的全基因组关联研究 (GWAS) 确定了全球相关的遗传变异.
- 汇编揭示了影响头发特征的基因与参与HF相关疾病的基因之间存在显著的重叠.
- 对头发特征的遗传研究有助于了解HF生物学和疾病机制.
结论:
- 对常见头发特征的遗传研究是了解毛囊生物学的强大工具.
- 来自特征遗传学的见解可以为我们了解与头发相关的疾病提供信息.
- 研究共同特征中的遗传因素对人类健康和疾病具有广泛的相关性.
相关概念视频
Polygenic Traits
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...
Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Polygenic Traits
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...
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...
GWAS does not require the identification of the target gene involved in...
Accessory Structures of the Skin: Hair and Hair Follicles
Hair and hair follicles are integral components of the integumentary system. Hair is a filamentous structure composed mainly of a protein called keratin. It is found on the surface of the skin throughout the body, except for areas such as the palms of the hands and soles of the feet.
Hair is a keratinous filament growing out of the epidermis. It is primarily made of dead, keratinized cells. Hair strands originate at the epidermal penetration called the hair follicle. The hair shaft is the part...
Hair is a keratinous filament growing out of the epidermis. It is primarily made of dead, keratinized cells. Hair strands originate at the epidermal penetration called the hair follicle. The hair shaft is the part...
Accessory Structures of the Skin: Hair Growth and Types
Hair growth begins with the production of keratinocytes by the basal cells of the hair bulb. As new cells are deposited at the hair bulb, the hair shaft is pushed through the follicle toward the surface. Keratinization is completed as the cells are pushed to the skin surface to form the shaft of hair that is externally visible. The external hair is completely dead and composed entirely of keratin. Hair can be cut or shaven without damaging the hair structure because the cut is superficial. Most...


