第四届生信会议ppt cchen_170421_生信学术会议.pptVIP

复杂多维调控网络 Population Individual Tissue Cell type Genetics (SNP, CNV... ) mRNA Epigenetics (DNAm, miRNA, lncRNA...) Protein Phenotype 20y 60y PD, AD most GWAS mQTL Autism De novo mutation eQTL pQTL DNAm mRNA Brain (CB, PFC,PC) Blood Liver 24h DNAm mRNA Neuron+ Neuron- DNAm mRNA Psych ENCODE DNAm mRNA Sexually dimorphic methylation lncRNA miRNA Acknowledgement Chunyu Liu Tanya Horwits Kay Grennan Lijun Cheng Hua yun Chen Elliot S. Gershon Judith A Badner Ney Alliey-Rodriguez Chunyu Liu Qingtuan Meng Yan Xia Chuan Jiao Rujia Dai Kangli Wang Cuihua XiaNational Science Foundation for Youths National Science Foundation General Program 506010101 Innovation Driven Project 502044001 CSU Outstanding Youths Program The number of independent genome-wide significant (P 5 × 10?8) loci are plotted as a function of the numbers of cases in the largest meta/mega-analysis. The inset shows detail for studies with fewer than 6,000 cases. CD-IBD, Crohns disease and inflammatory bowel disease (including CD and ulcerative colitis); Cross-disorder: broad psychiatric phenotype spanning ASD, ADHD, BPD, MDD, SCZ; SCZ-BPD, SCZ and BPD The trajectory of GWAS discovery for SCZ, which increased from 1 locus to 7 (ref. 21) to 22 (ref. 28) to 62 (ref. 29) to 100 (ref. 13) as the number of cases increased from ~3,000 to 35,000, is not dissimilar to that of other (non-psychiatric) diseases In many cases of coordinated changes, the associated genetic variants seem to act through the disruption of transcription factor binding sites This body of work highlights the value of using multiple molecular phenotypes to understand the connection between genetic variation and gene expression. * Decoding the regulatory landscape of psychiatric diseases 陈 超 医学遗传学国家重点实验室 中南大学 常见精神疾病 DSM-5《精神障碍诊断与统计手册第五版》 分类 双相情感障碍 抑郁 焦虑 精神分裂症 强迫症 多动症 自闭症 成瘾 …… 20%的人口的精神健康问题达到了临床诊断标准 几种精神疾病的遗传度 表型 遗传度 精神分裂症 .60-.80