甘露糖受体基因（MRC1）中的遗传变异赋予了患结节病风险增加的易感性。
Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis.
机构信息
First Department of Medicine, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan.
出版信息
BMC Med Genet. 2010 Oct 28;11:151. doi: 10.1186/1471-2350-11-151.
BACKGROUND
Mannose receptor (MR) is a member of the C-type lectin receptor family involved in pathogen molecular-pattern recognition and thought to be critical in shaping host immune response. The aim of this study was to investigate potential associations of genetic variants in the MRC1 gene with sarcoidosis.
METHODS
Nine single nucleotide polymorphisms (SNPs), encompassing the MRC1 gene, were genotyped in a total of 605 Japanese consisting of 181 sarcoidosis patients and 424 healthy controls.
RESULTS
Suggestive evidence of association between rs691005 SNP and risk of sarcoidosis was observed independent of sex and age in a recessive model (P = 0.001).
CONCLUSIONS
These results suggest that MRC1 is an important candidate gene for sarcoidosis. This is the first study to imply that genetic variants in MRC1, a major member of the C-type lectin, contribute to the development of sarcoidosis.
背景
甘露糖受体（MR）是 C 型凝集素受体家族的一员，参与病原体分子模式识别，被认为在塑造宿主免疫反应方面至关重要。本研究旨在探讨 MRC1 基因中的遗传变异与结节病之间的潜在关联。
方法
对总共 605 名日本人进行了 9 个单核苷酸多态性（SNP）的基因分型，其中包括 181 名结节病患者和 424 名健康对照。
结果
在隐性模型中，rs691005 SNP 与结节病的风险之间存在提示性关联，与性别和年龄无关（P = 0.001）。
结论
这些结果表明 MRC1 是结节病的一个重要候选基因。这是第一个表明 C 型凝集素主要成员 MRC1 中的遗传变异有助于结节病发展的研究。
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