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by University of Pittsburgh Arthritis Institute,
Carol Feghali-Bostwick, Ph.D. and Thomas A. Medsger,
Jr., M.D.
For Phase One of this study pairs of identical
and fraternal twins were recruited in whom one
or both co-twins have SSc. For a disease to result
from inherited genes, a larger proportion of identical
twins should be concordant for the disease compared
to fraternal twins. A total of 42 twin pairs completed
the first phase of the study.
Our findings suggest that:
- autoantibodies are present in the circulation
of the majority of healthy twins if the affected
twin has SSc
- identical twins are more likely than fraternal
twins to have autoantibodies; and
- concordance for SSc in identical twins is
not 100%, indicating that inheritance is not
solely responsible for the development of SSc
and that environmental factors or genetic changes
occurring at some point in life are likely to
be important triggers of SSc.
The second phase of the study involves collecting
skin biopsies for the culture of skin cells known
as fibroblasts. This second phase is ongoing.
If you or your twin have scleroderma, we invite
you to participate in our study. Please contact:
Jennifer Jablon, Study
Coordinator
Phone: 412-383-8674 or 800-603-8960
Email: jablonj@msx.dept-med.pitt.edu |
