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Geneticists
Geneticists have identified a link between the number of copies
of a specific gene an individual has and their susceptibility to
autoimmune diseases like lupus. Research using DNA has revealed that
people who have a below average number of copies of a gene, known as
FCGR3B, have an increased risk of developing diseases caused when
the body's immune system attacks its own tissue.
The research by Professor Tim Aitman of the Medical Research Council
Clinical Sciences Centre at Imperial College London, and colleagues,
is published in Nature Genetics.
Professor Aitman explains the team's research discovery:
''The variations in DNA that people carry contribute to
observable characteristics like height, weight and skin colour.
Genetic variations have similar effects on individual susceptibility
to disease. In this research our team focused on structural
differences in the genome and set out to determine whether the
number of copies of a particular gene a person has influences their
chances of developing an autoimmune disease. We discovered that not
only does the number of copies of a gene you have influence your
chances of disease but that this kind of structural variation in the
genome could be driving evolution of human weaknesses for infection
and inflammation.'' The team studied DNA from two groups of
people living in the UK and France. They discovered that people who
have a comparatively low number of FCGR3B genes are more likely to
suffer from autoimmune diseases like lupus (systemic lupus
erythematosus) that affect the whole body. The same link was not
found to autoimmune conditions affecting just one organ such as
Addisons' disease, which damages the adrenal gland, or Graves'
disease, which attacks the thyroid.
Human genome research increasingly provides evidence that
individuals vary in the number of copies of genes present in each of
their genomes. Professor Aitman concludes:
''Our discovery highlights the importance of gene copy number
variation, that is differences in the number of copies of a specific
gene a person carries, in genetic predisposition to common human
diseases. The next step is to find out whether genes that are
closely related to this susceptibility gene, FCGR3B, also vary in
copy number and predispose to similar diseases.''
The research team hopes to achieve these aims by studying the
genomes of individual people to find out if there is any correlation
between gene copy number and patterns of disease presentation or
responses to specific treatments.
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