Researchers identify new genetic link to systemic scleroderma

Researchers identify new genetic link to systemic scleroderma
30. April 2010 07:54

DNA research seen as critical to finding cure

An international research consortium including scientists from The University of Texas Health Science Center at Houston (UTHealth) has identified a new genetic link to the systemic form of scleroderma. Researchers believe a thorough understanding of the genetic nature of the disease is crucial to developing a cure.

Systemic scleroderma is a profoundly disabling autoimmune disease that affects about 100,000 people in the United States. Autoimmune diseases are caused by malfunctioning immune systems, which attack their own cells.

In the May print issue of Nature Genetics, scientists report they found a new region of the human genome associated with increased systemic scleroderma susceptibility. "With our latest discovery, we are probably a quarter of the way to finding the genes and pathways responsible for systemic scleroderma," said Maureen D. Mayes, M.D., one of the study's senior authors and a professor of rheumatology at The University of Texas Medical School at Houston, which is a part of UTHealth. "Once most of the important genes are found, we will be able to focus on developing interventions to block their activity."

In the study, scientists used a genetic research technique called a genome-wide association study that allows researchers to detect genetic variations associated with a particular disease. It was the first large application of this technique to systemic scleroderma, she said.

A genetic comparison of 2,296 people with systemic scleroderma to 5,171 without the disease led scientists to a region of the genome known as CD247. "This region contains a gene that is central to immunity, which makes this very exciting," Mayes said.

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Researchers identify new genetic link to systemic scleroderma