BMC Medical Genetics (Oct 2010)

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

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

DOI
https://doi.org/10.1186/1471-2350-11-151
Journal volume & issue
Vol. 11, no. 1
p. 151

Abstract

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Abstract 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.