Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis.

Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis.
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DOI:
10.1186/1471-2350-11-151
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发表时间:
2010-10-28
影响因子:
--
通讯作者:
Nishimura M
Nishimura M
中科院分区:
医学4区
文献类型:
--
作者:
Hattori T;Konno S;Takahashi A;Isada A;Shimizu K;Shimizu K;Taniguchi N;Gao P;Yamaguchi E;Hizawa N;Huang SK;Nishimura M

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甘露糖受体(MR)是C型凝集素受体家族的一员,参与病原体的分子模式识别,并被认为是塑造宿主免疫反应的关键。本研究的目的是调查MRC1基因的遗传变异与结节病的潜在关联。9个单核苷酸多态性(SNPs),包括MRC1基因,基因分型,在605个日本人组成的181结节病患者和424名健康对照。在隐性模型中,观察到rs691005 SNP与结节病风险之间的相关性的暗示性证据,与性别和年龄无关(P = 0.001)。这些结果表明,MRC1是结节病的一个重要候选基因。这是第一项研究表明,MRC1(C型凝集素的主要成员)的遗传变异有助于结节病的发展。
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. 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. 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). 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.
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发表时间: 2005-03-07
期刊: The Journal of experimental medicine
影响因子: --
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