BTK基因作为Graves病的候选基因

Gene Function & Disease Pub Date : 2001-08-17 DOI:10.1002/1438-826X(200009)1:2<99::AID-GNFD99>3.0.CO;2-R

Ronald B. Villanueva, Giuseppe Barbesino, David A. Greenberg, Erlinda Concepcion, Stefania Tucci, Terry F. Davies, Yaron Tomer

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摘要

格雷夫斯病(GD)是遗传因素和环境因素共同作用的结果。我们检测了免疫调节基因，布鲁顿酪氨酸激酶(BTK)，这是一个位于染色体Xq21.33−22区域的候选基因，我们之前发现它与GD有关，并命名为GD-3。本研究旨在确定BTK是否为GD-3。GD与标记物DXS178的等位基因与A/C SNP之间没有关联。我们认为BTK不是染色体Xq21.33−22上的GD-3 Graves病易感基因。

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The BTK Gene as Candidate Gene for Graves’ Disease

Graves’ disease (GD) results from an interplay of genetic factors and environmental triggers. We examined the immunoregulatory gene, Bruton’s tyrosine kinase (BTK), a candidate gene located in a region on chromosome Xq21.33−22 which we have previously found to be linked to GD and designated as GD-3. The study aimed to identify whether BTK was GD-3. No association was found between GD and alleles of the marker DXS178 and the A/C SNP. We concluded that BTK is not the GD-3 Graves’ disease susceptibility gene on chromosome Xq21.33−22.

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Gene Function & Disease

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