Researchers from Brigham and Women's Hospital (BWH), Harvard Medical
School (HMS), the Broad Institute of MIT and Harvard, Massachusetts
General Hospital (MGH), and University of Chicago report findings
demonstrating how genetic variations among healthy, young individuals
can influence immune cell function. Many of those variants are also
genetic risk factors for common diseases such as Alzheimer's disease, diabetes, and multiple sclerosis later in life, offering new insight into disease pathology.
The researchers recruited a subset of 461 volunteers from the
PhenoGenetic Project of African American, East Asian American, or
European American ancestry. Two different types of immune cells - T
cells and monocytes - were purified from each individual's blood,
representing the adaptive and innate arms of immunity, respectively. The
researchers profiled these cells to measure the expression of 19,114
genes in each cell type. They then examined genetic variants throughout
the human genome for their effects on gene expression in these two
representative populations of immune cells.
They discovered that genetic variation influencing a person's risk for multiple sclerosis, rheumatoid arthritis, and type 1diabetes is more likely to control gene activity in T cells
than in monocytes. In contrast, genetic variation that increases one's
risk for neurodegenerative diseases, such as Alzheimer's and Parkinson's disease, shows a striking enrichment of functional effects in monocytes.
School (HMS), the Broad Institute of MIT and Harvard, Massachusetts
General Hospital (MGH), and University of Chicago report findings
demonstrating how genetic variations among healthy, young individuals
can influence immune cell function. Many of those variants are also
genetic risk factors for common diseases such as Alzheimer's disease, diabetes, and multiple sclerosis later in life, offering new insight into disease pathology.
The researchers recruited a subset of 461 volunteers from the
PhenoGenetic Project of African American, East Asian American, or
European American ancestry. Two different types of immune cells - T
cells and monocytes - were purified from each individual's blood,
representing the adaptive and innate arms of immunity, respectively. The
researchers profiled these cells to measure the expression of 19,114
genes in each cell type. They then examined genetic variants throughout
the human genome for their effects on gene expression in these two
representative populations of immune cells.
They discovered that genetic variation influencing a person's risk for multiple sclerosis, rheumatoid arthritis, and type 1diabetes is more likely to control gene activity in T cells
than in monocytes. In contrast, genetic variation that increases one's
risk for neurodegenerative diseases, such as Alzheimer's and Parkinson's disease, shows a striking enrichment of functional effects in monocytes.
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