A team of researchers from Boston and other areas of the US has along with the help of other institute colleagues identified possibly hundreds of casual variants found to have a connection with blood cell traits and have even linked them to some of the vital blood-related mechanisms. The current study focuses on detailing out more of information related to genetic variants present in blood cells which play a role in the blood mechanisms like trigger genes regulating white blood cells and also regulate the standard count of white blood cells in an individual. With the help of a genome-wide association study (GWAS) for the UK Biobank data scanning help better understand the blood cell features including white cell count, hemoglobin levels, and platelet count. The fundamental goal was the hemopoiesis taking place in the bone marrow helped achieve a better understanding.
The fine mapping technique helped the team examine the volunteers 2,000 3-Mb-sized genetic areas that had a genome-wide connection. After the scrutinizing, the researchers were able to locate about 38,654 variants that as per their analysis showed more than 1% of probably remaining casual. The variants with a posterior probability of 0.75 or more also comprised of a minor allele frequency with 5% or more. The nonsynonymous variants were identified belonging to the loss-of-function coding in 230 genes that were associated with the mechanisms they were studying like red blood cells, lymphocytes, platelets, and monocytes.
The variants helped identify the mechanisms it was associated with such as red blood cells characteristics in connection to iron homeostasis, or platelets’ features that is connected to the process of coagulation. According to the researchers, the 170 variants found to date were pleiotropic. The researchers created a new method named genetic-chromVAR to enrich their fine-mapped variants’ results. Boston Children’s Hospital has taken a deep dive into the molecular level of Diamond-Blackfan anemia in which the researchers have found that the key that creates mature red blood cells from the primary form of blood cells named hematopoietic (blood-forming) stem cells.