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

Takeshi Hattori, Satoshi Konno, Ayumu Takahashi, Akira Isada, Kaoruko Shimizu, Kenichi Shimizu, Natsuko Taniguchi, Peisong Gao, Etsuro Yamaguchi, Nobuyuki Hizawa, Shau Ku Huang, Masaharu Nishimura

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26 Citations (Scopus)


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.

Original languageEnglish
Article number151
JournalBMC Medical Genetics
Issue number1
Publication statusPublished - Oct 28 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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