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. 2010 Oct 28:11:151.
doi: 10.1186/1471-2350-11-151.

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

Takeshi Hattori  1 , Satoshi Konno, Ayumu Takahashi, Akira Isada, Kaoruko Shimizu, Kenichi Shimizu, Natsuko Taniguchi, Peisong Gao, Etsuro Yamaguchi, Nobuyuki Hizawa, Shau-Ku Huang, Masaharu Nishimura
Affiliations

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

Takeshi Hattori et al. BMC Med Genet. .

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.

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Figures

Figure 1
Figure 1
Linkage disequilibrium structure (LD) of MRC1 gene across the 98.8 kb in Japanese (n = 605). Black squares represent high pairwise linkage disequilibrium, coloring down to white squares of low pairwise linkage disequilibrium. The numbers in the individual squares are D' multiplied by 100.
Figure 2
Figure 2
Linkage disequilibrium structure (LD) of 3 SNPs (rs544995, rs544313 and rs691005) in MRC1 gene. Black squares represent high pairwise linkage disequilib. The numbers in the individual squares are D' multiplied by 100.
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