FOR IMMEDIATE RELEASE
Contact:
Donna Krupa
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703.967.2751 (cell) or
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FATHERS PLAY THE KEY ROLE
IN TRANSMITTING SUSCEPTIBILITY TO AUTOIMMUNE DISEASES TO THEIR
DAUGHTERS
Researchers find that hormones and X-chromosomal genes may
play a role in gender-specific susceptibility to endocrine disorders
PITTSBURGH, Pa. -- Thyroid autoimmune disorders
such as Graves' disease (GD) or Hashimoto's thyroiditis (HT) and other
autoimmune diseases have a strong, yet unexplained female preponderance. At
the same time, some human lymphocyte antigens
(HLA) susceptibility alleles found in Type 1 diabetes mellitus (TlDM) point
to a higher risk for boys than girls.
Type 1 diabetes is one of the most frequent chronic
diseases in children. Although it is an autoimmune disorder, its etiology
remains unclear. However, there is considerable evidence that both genetic
and environmental factors are major determinants. As a genetic marker, Type
1 diabetes is primarily determined by genes in the HLA region of chromosome
6.
The authors of the study, "Evidence For Gender-Specific
Effects On the Transmission of Androgen Receptor Does Not Play A Role
In The Thymic HLA Susceptibilily Alleles To Patients With Graves' Disease,
Hashimoto's Thyroiditis As Well As Type 1 Diabetes Mellitus," are K.
Badenhoop, T. Siegmund and M.A. Pani, of the Department of Endocrinology,
University Hospital, Frankfurt/Main, Germany; M. Segni of the Department of
Pediatrics, University La Sapienza, Rome, Italy; and J. Ramser and A. Meindl,
both from the Department of Medical Genetics, Children's Hospital,
University of Munich, Germany. Their findings are being presented in detail
at the upcoming conference, Genomes and Hormones: An Integrative Approach
to Gender Differences in Physiology, being sponsored by the American
Physiological Society (APS). The conference is being held October 17-20,
2001, at the Westin Convention Center, Pittsburgh, Pa.
Methodology and Results
The researchers investigated patients with Graves’
disease, Hashimoto’s thyroiditis or Type 1 Diabetes Mellitus -- and their
parents -- to identify transmission of high risk HLA DQ alleles using
standard sequence-specific typing methods. Altogether 1,347 individuals were
investigated of which 130 individuals and their parents had thyroid
autoimmune disorders ( 12 with GD, 91 with HT and 346 with T1DM).
v
There was significant susceptibility for both GD and HT
associated with DQ2 alleles that was most pronounced when transmitted from
fathers to affected daughters.
v
In TlDM patients, the DQ8 haplotype was found significantly
more often to be transmitted by fathers than by mothers to affected
offspring (p=0.005) mainly due to a preferential transmission of DQ8 by
fathers to affected daughters.
Conclusions
These results suggest an X-chromosomal factor interact
with HLA DQ haplotypes in Graves’ disease, Hashimoto’s thyroiditis or Type 1
Diabetes Mellitus. In addition, hormonal factors may regulate this
interaction since some of the observed transmission differences disappear
when pre- and postpubertal manifestation of disease is separately analyzed.
Thus, both X-chromosomal genes and hormones may play a role in sex-specific
susceptibility to endocrine autoimmunity.
-end-
The
American Physiological Society (APS) was founded in 1887 to foster basic and
applied science, much of it relating to human health. The Bethesda,
MD-based Society has more than 10,000 members and publishes 3,800 articles
in its 14 peer-reviewed journals every year.
***
Editor’s Note: To receive a copy of the abstracts, to interview speakers or
for more information, contact Donna Krupa at 703.527.7357(direct dial),
703.967.2751 (cell) or djkrupa1@aol.com.
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