全基因组协会研究确定了毛发生长和发型的基因与pilonidal疾病有关.
Jeffrey L Roberson1, Cyrus Farzaneh1,2, Christopher J Neylan1
1Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Diseases of the colon and rectum
|June 20, 2024
概括
这项研究确定了与毛发生长和雄激素特征相关的遗传因素. 这些发现提供了对疾病的生物学见解.
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:
- 柱状鼻疾病是一种常见的慢性疾病,影响神经囊区域.
- 它与家族史的强烈关联表明遗传成分,但遗传风险因素仍未得到研究.
研究的目的:
- 为了确定基因风险因素,为pilonidal鼻疾病 (PSD).
主要方法:
- 一项全基因组关联研究 (GWAS) 使用来自英国生物银行,FinnGen生物银行和宾夕法尼亚医学生物银行的数据进行.
- 将全基因组显著变异映射到基因中,并评估了与头发表型的遗传相关性.
- 一种基因组第一方法分析了头发轴基因 (TCHH,PADI3,TGM3) 的罕见变异.
主要成果:
- 该GWAS确定了5个与PSD相关的全基因组显著基因位点,涉及参与发型和发的基因.
- 在PSD和雄激素驱动的头发特征之间发现了显著的遗传相关性,包括男性模式发.
- 在TCHH中罕见的编码变异与PSD的患病率增加有关.
结论:
- 遗传分析揭示了柱状鼻疾病和头发生物学之间的共同遗传架构.
- 这项研究为PSD的遗传基础提供了第一个调查,为其与男性性别和头发特征的联系提供了生物学见解.
更多相关视频
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.1K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
相关概念视频
Genome-wide Association Studies-GWAS
13.3K
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...
13.3K
Pleiotropy
40.4K
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,...
40.4K
Polygenic Traits
65.7K
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...
65.7K
Multipotency and Niche of Bulge Stem Cell
3.6K
A hair follicle or HF is a small part of the skin that produces the hair shaft. Paul Gerson Unna was the first to observe a bulge in the human hair follicle's outer root sheath (ORS). The bulge is present between the sebaceous gland and the arrector pili muscle and is the niche for hair follicle stem cells (HFSCs). The bulge is also a niche for melanocyte stem cells, and their loss results in graying of hair. The HFSCs express Sox9 and Lhx2, which help them maintain stemness and prevent...
3.6K
Incomplete Dominance
22.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.5K
Pedigree Analysis
84.2K
Overview
84.2K
