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find Keyword "全基因组关联分析" 3 results
  • 特发性震颤的遗传学研究进展

    特发性震颤(essential tremor,ET)是最常见的成年起病的神经系统变性疾病之一。ET 分为家族性和散发性 2 种,约一半以上患者存在家族史,遗传因素可能发挥着重要作用。目前,大量研究致力于寻找 ET 发病的风险位点及致病基因。进行 ET 遗传学分析有助于进一步研究其病理生理机制,因此文章从该病的单基因遗传模式及复杂疾病遗传模式 2 个方面对 ET 的遗传学进展进行了阐述。

    Release date:2017-05-18 01:09 Export PDF Favorites Scan
  • Progress in the study of the imaging genomics of Alzheimer's disease

    With the exacerbation of aging population in China, the number of patients with Alzheimer's disease (AD) is increasing rapidly. AD is a chronic but irreversible neurodegenerative disease, which cannot be cured radically at present. In recent years, in order to intervene in the course of AD in advance, many researchers have explored how to detect AD as early as possible, which may be helpful for effective treatment of AD. Imaging genomics is a kind of diagnosis method developed in recent years, which combines the medical imaging and high-throughput genetic omics together. It studies changes in cognitive function in patients with AD by extracting effective information from high-throughput medical imaging data and genomic data, providing effective guidance for early detection and treatment of AD patients. In this paper, the association analysis of magnetic resonance image (MRI) with genetic variation are summarized, as well as the research progress on AD with this method. According to complexity, the objects in the association analysis are classified as candidate brain phenotype, candidate genetic variation, genome-wide genetic variation and whole brain voxel. Then we briefly describe the specific methods corresponding to phenotypic of the brain and genetic variation respectively. Finally, some unsolved problems such as phenotype selection and limited polymorphism of candidate genes are put forward.

    Release date:2019-02-18 03:16 Export PDF Favorites Scan
  • Genome-wide association analysis of genetic susceptibility to hepatitis B virus co-infection in patients with pulmonary tuberculosis

    ObjectiveTo explore the single locus mutation that related to hepatitis B virus (HBV) co-infection by means of genome-wide association study (GWAS) in Chinese Han patients with pulmonary tuberculosis (TB).MethodsA total of 946 patients with pulmonary TB enrolled between March 2013 and March 2018 were genotyped by Illumina Human Omni Express gene chip. After quality control, 389 972 single nucleotide polymorphisms (SNPs) of 703 patients with single TB infection and 53 patients with TB-HBV co-infection were included in the follow-up association analysis.ResultsThe SNP with the strongest statistical correlation signal was rs118122819 (P=2.923×10−12, odds ratio=7.933) located on chromosome 8p23.1. Other potential susceptibility genes included CDH4 (rs73309833), MARCH1 (rs3797020), and DNER (rs13393112), etc. In addition, a strong linkage imbalance between rs118122819 and rs4840365 (D’=0.88, r2=0.76) was found, while rs4840365 was located in the MFHAS1 gene region.ConclusionsThis study provides evidence for the presence of susceptibility gene locus for HBV co-infection in pulmonary TB patients, and provides important clues for the mechanism research, disease prevention, and treatment of co-infection. But these associations must be replicated and validated in larger studies.

    Release date:2019-08-15 01:20 Export PDF Favorites Scan
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