A team of researchers from Italy, the U.K. and the U.S. has isolated a number of immune cell-related genetic variants that may impact autoimmune conditions. In their paper published in the journal Nature Genetics, the group describes the host of tools and techniques they used to uncover previously unknown immune-cell variants that might be associated with a variety of immune-related diseases.
Prior research has shown that a large number of diseases once thought to be organ- or site-specific also have immune response connections. Inflammatory bowel disease, multiple sclerosis and Kawasaki disease are just a few examples. In response to such findings, researchers have been taking a harder look at immune cells and associated variants that might be behind the onset of such diseases.
The work involved conducting genome-wide association studies (GWAS) on blood samples from 3,500 people living in Sardinia. The studies involved the use of genotyping profiles and imputation as a means of looking for variants involving 731 immune cell traits. The actual work involved using cell surface markers and flow cytometry-based cell sorting.
In all, the researchers looked at data for 22 million variants found in the blood samples (some of which came from people in the same family). In so doing they found 122 single nucleotide polymorphisms, 52 of which were new and 17 loci that could be independently tied to 459 individual cell traits. They note that the set also included variants found at approximately 36 loci that had been associated with known autoimmune diseases.
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