来自VA的百万退伍军人计划中,一项全基因组协会研究的腹炎
概括
遗传学研究表明,补充性水炎 (HS) 有遗传组成部分. 这项研究在6号染色体上发现了一种新的HS相关遗传变异,并证实了其他变异,进步了对HS遗传学的理解.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 皮肤病学 皮肤病学
- 人类健康 人类健康 人类健康
背景情况:
- 家庭和双胞胎研究表明,hidradenitis suppurativa (HS) 的遗传成分.
- 以前的全基因组关联元分析支持HS的遗传基础.
研究的目的:
- 为了研究腹炎 (HS) 的遗传结构.
- 通过全基因组关联研究 (GWAS) 识别与HS相关的新型遗传位置.
主要方法:
- 全基因组关联研究 (GWAS) 针对来自百万退伍军人计划 (MVP) 的大量队列进行.
- 对非洲,欧洲和西班牙裔祖先进行了多种群和特定种群分析.
- 在外部数据集中,使用全现象关联研究 (PheWAS) 进一步研究了单核酸多态性 (SNP).
主要成果:
- 该研究确定了MVP队列中的4959名HS参与者 (N=597,819).
- 确定了与HS相关的两个显著位点:在染色体6上的HLA-DRB1附近的一个新型变异 (rs679242) 和在染色体17上的SOX9附近的一个先前已知的位点 (rs55811634).
- 发现了几种先前报告的HS位点的暗示性证据,包括WNT10A,KLF4,KLF5和TMED10附近的变体.
结论:
- 百万退伍军人计划 (MVP) 的资源分析揭示了HS在HLA-DRB1.1.附近的6号染色体上HS的新型遗传信号.
- 有意义和有意义的证据支持先前确定的基因位点与 hidradenitis suppurativa (HS) 相关.
相关概念视频
Genome-wide Association Studies-GWAS
15.7K
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...
15.7K
Genomics
40.7K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.7K
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
16.2K
The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
16.2K
Association Areas of the Cortex
9.4K
Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...
9.4K
Associative Learning
1.3K
Associative learning is a fundamental concept in behavioral psychology, wherein a connection is established between two stimuli or events, leading to a learned response. This process is critical in understanding how behaviors are acquired and modified. Conditioning, the mechanism through which associations are formed, can be divided into two main types: classical conditioning and operant conditioning, each elucidating different aspects of associative learning.
Classical conditioning, also known...
Classical conditioning, also known...
1.3K
Genomic Imprinting and Inheritance
37.2K
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...
37.2K


