Gene linked to autoimmune diseases : Nature News

Published online 16 June 2010 | Nature | doi:10.1038/news.2010.300

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Gene linked to autoimmune diseases
Rare variants of a single gene seem to make patients more susceptible to multiple diseases.

Alla Katsnelson


Many different autoimmune disorders including type 1 diabetes may in some cases be partly caused by small differences in just one gene.
SPL / PunchstockDifferences in the sequence of a single gene may be partly responsible for causing around 2% of relatively common autoimmune disorders including diabetes and arthritis.

The gene codes for an enzyme called sialic acid acetylesterase (SIAE) that regulates the immune system's B cells — the cells responsible for producing antibodies against foreign invaders. In 24 of 923 people with conditions such as Crohn's disease, type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus and multiple sclerosis, the gene was present in a variant form.

For the past five years, genome-wide screens of large groups of patients have searched for commonly occurring gene variants associated with complex diseases that are unlikely to have a single genetic cause. Although many such variants have been identified, they explain little in terms of disease susceptibility. More recently, scientists have begun to wonder whether rare variants may better account for the genetic underpinnings of such diseases.

"It's still very much a question mark" whether rare variants will contribute to complex and relatively common disorders, says Jay Shendure, a genomicist at the University of Washington in Seattle who was not involved in the study. "But studies like this show that there is something to be found."

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Gene linked to autoimmune diseases : Nature News