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Crohn Disease Gene
Joan Stephenson, PhD
JAMA. 2001;285:2847.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Two teams of scientistsone from Europe and one from the United Stateshave independently discovered that people with mutations in a gene called NOD2, which is involved in the body's innate immune response, have an increased risk of developing an inherited form of Crohn disease.
The investigators found that about 15% of patients with Crohn disease tested had a mutated NOD2 gene, which suggests that other susceptibility genes remain to be identified. People with one mutated copy of NOD2 had twice the normal risk of developing Crohn disease, while those with two defective genes have 20 to 40 times the risk.
The protein encoded by NOD2 is normally expressed in monocytes and helps the body recognize the presence of invading bacteria and mount a general defense. However, mutations in NOD2 result in an aberrant protein and alter the immune system's response, reducing the ability of monocytes to . . . [Full Text of this Article]
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