Large Neuropathology GWAS Finds Four New Dementia Genes The GWAS turned up eight dementia genes, four known and four new First, the known genes: APOE, BIN1, TMEM106B, and GRN APOE was associated with all three AD pathologies, as well as CAA and TDP-43, while the AD gene BIN1 associated with CERAD and tangles, but not total plaques
在gwas研究中如何寻找最显著的SNP值,然后再根据这个SNP位点筛选候选基因呢? - 知乎 最显著的snp指的是p值最小的点,在gwas研究中一般认为p<5*10-8的点是有显著关联的。 比较早的GWAS研究是直接把这些P<5*10-8拿出来作为易感位点,后来会进一步用conditional 分析去寻找locus上的second signal,或者用stepwise 回归寻找可靠的causal SNP set(也叫做fine-mapping
Massive GWAS Meta-Analysis Digs Up Trove of Alzheimer’s Genes GWAS finds regions in the genome, not genes per se The difficult part is actually finding the underlying causal variant However, we are obtaining a full picture of locations in the genome that may harbor important genetic variants that would facilitate the ability to identify potential targets for drug development
Largest Alzheimer GWAS in African Americans Finds New Variants Furthermore, the GWAS loosely tied four new common variants to AD—one near the intracellular trafficking gene EDEM1, one within the immune response gene ALCAM, another within GPC6, a gene involved in recruiting glutamatergic receptors to the neuronal membrane; and one within VRK3, which encodes a kinase implicated in glutamate neurotoxicity
GWAS系列 - 知乎 全基因组关联研究(Genome-wide association studies,GWAS)是一种革命性的遗传学研究方法,它的出现为我们探究人类基因与疾病之间的关系提供了全新的途径。通过对大规模样本进行基因型和表型数据的分析,GWAS可以识别出与某种特定性状或疾病风险相关的基因变异。
Parkinson’s Risk Gene Speeds Spread of α-Synuclein Pathology In a new meta-GWAS, first author Kai-Min Wu and colleagues tapped genetic data from the U K Biobank, Finland’s FinnGen genetic data repository, and a Genentech study of nearly 6,500 PD cases and 300,000 controls (Chang et al , 2017) Wu identified four new SNPs in FAM171A2 that each nudged up a person’s risk of PD by 5 to 10 percent
In Progressive Supranuclear Palsy, Risk Loci Converge on . . . The new GWAS includes 2,779 PSP cases and 5,584 age-matched controls, nearly double the number of cases included in all previous studies More than 90 percent of cases, and all of the controls, were neuropathologically confirmed at autopsy, and genetic analyses were performed from extracted brain tissue