June 30th, 2010
01:08 PM ET

Researchers find gene linked to hair loss

Researchers at Columbia University Medical Center believe they have found the genetic basis of alopecia areata, an autoimmune disease that attacks hair follicles and causes people to lose their hair.

The findings could make it easier to develop new treatments for the condition, in which loss can range from patches on the scalp to complete absence of hair on the entire body. Affecting approximately 5.3 million people, AA is the most common autoimmune disease in humans and is second only to male pattern baldness, when it comes to common forms of hair loss.  There is no cure and no effective treatments, aside from painful steroid injections to the scalp that don't always work.

Dr. Angela Christiano, professor of dermatology and genetics and development at Columbia University Medical Center, was lead author of the study. She noted her team's discovery is important because it was originally thought that AA was more related to inflammatory diseases, such as psoriasis, where a particular cell attacks the skin. But during their research, Christiano and her investigators learned that AA is actually more genetically related to celiac disease, rheumatoid arthritis and type 1 diabetes – and since there are many drugs under development and some on the market already for the same gene targets, new treatments for AA should be relatively close by. That makes Christiano happy. Not only because her research will be helping millions of people, but she herself may benefit. She, too, suffers from AA.

"It gives us hope, that some day there may be a cure for this condition," she says. " It gives pharmaceutical companies a target to go forward and start developing new drugs to fight AA."

This research was conducted using more than 1,000 samples from the National Alopecia Areata Registry, a patient registry for alopecia areata funded by the National Institute for Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health. Columbia University Medical Center is one of five collection sites nationwide.  Christiano and her team uncovered eight genes that underpin alopecia areata. Among the eight genes, one stands out for its potential role in the onset of the disorder.

"This research is very exciting as alopecia areata affects a huge number of people worldwide," said Vicki Kalabokes, president and CEO of the National Alopecia Areata Foundation . "Hair loss is life-altering – sufferers, especially children, experience social stigma. It affects their quality of life and can lead to long-term psychosocial impact."

Alopecia areata usually starts with one or more small, round patches on the scalp and may eventually progress to total scalp hair loss (alopecia totalis) or complete body hair loss (alopecia universalis). In some people, hair may grow back in or fall out again at any time. Not only is the condition difficult to deal with physically, but emotionally the patient never knows when it will happen again.

Christiano's team looked for a correlation between how many genes (each gene comes in two pairs) people with different severities of alopecia areata carried, and found that people who carried 13-14 genes had disease that did not progress, while those with 16 or more most often progressed to alopecia universalis, or total baldness.
With this new data, Christiano and Columbia researchers are developing a genetic test that may eventually predict the severity of disease.

"The advantage of this large sample size is that we can be sure that this group of genes was identified with a high statistical significance and did not happen by chance," said Christiano. "The next step is to replicate this study in future research

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