Genome-wide association studies (GWAS) have identified multiple loci associated with complex diseases, but these are mostly on regulatory genes in the non-coding part of the genome and it has proved difficult to identify the effector genes that they control. Now, researchers in the U.K. have shown how single cell sequencing at scale can be used to precisely link non-coding GWAS loci to specific protein coding genes and cell types.
Genome-wide association studies (GWAS) have identified multiple loci associated with complex diseases, but these are mostly on regulatory genes in the non-coding part of the genome and it has proved difficult to identify the effector genes that they control. Now, researchers in the U.K. have shown how single cell sequencing at scale can be used to precisely link non-coding GWAS loci to specific protein coding genes and cell types.
New research has filled in missing links between gene variants that have been implicated in disease through genome-wide association studies and how the variants drive disease pathology. The research involved using induced pluripotent stem cells derived from healthy donors and transforming them into macrophages. These were then exposed to 24 different stimuli mimicking infection and inflammation, and the gene expression profiles assessed six and 24 hours later, to see which genes were turned on or off in response.
New research has filled in missing links between gene variants that have been implicated in disease through genome-wide association studies and how the variants drive disease pathology. The research involved using induced pluripotent stem cells derived from healthy donors and transforming them into macrophages. These were then exposed to 24 different stimuli mimicking infection and inflammation, and the gene expression profiles assessed six and 24 hours later, to see which genes were turned on or off in response.
Despite having lower smoking habits than other groups in the U.S., Black Americans are more likely to develop lung cancer, and their survival rates are significantly worse. What explains this disparity? Scientists at Vanderbilt University Medical Center have analyzed the genetics of their African ancestry in search of risk genes related to the disease and tobacco use. The results reveal new risk factors and confirm the presence of genetic variants that may contribute to the greater impact of lung cancer in this population.
An investigation of the epidemiology and clinical characteristics of neuropathic pain in the UK Biobank has led to the discovery of a new pain gene and potential analgesic drug target in the peripheral nervous system. The gene, SLC45A4 (solute carrier 45A4), codes for a transporter that is involved in trafficking polyamines known to be involved in pain, across the cell membrane.
An investigation of the epidemiology and clinical characteristics of neuropathic pain in the UK Biobank has led to the discovery of a new pain gene and potential analgesic drug target in the peripheral nervous system. The gene, SLC45A4 (solute carrier 45A4), codes for a transporter that is involved in trafficking polyamines known to be involved in pain, across the cell membrane.
The largest genome-wide association study to date of myalgic encephalomyelitis/chronic fatigue syndrome has identified eight genetic loci that are significantly associated with the chronic debilitating condition. Onset of ME/CFS often is traced back to an infection and four of the loci involve genes that are expressed in response to viral or bacterial infections.
The largest genome-wide association study to date of myalgic encephalomyelitis/chronic fatigue syndrome has identified eight genetic loci that are significantly associated with the chronic debilitating condition.
A new multi-omics approach to unpicking how noncoding gene variants influence the development of common chronic diseases has identified tens of thousands of instances where variants have an impact on gene expression levels and gene splicing, the post-transcriptional modification that allows one gene to code for multiple proteins.
