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

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Hattori, T.; Konno, S.; Takahashi, A.; Isada, A.; Shimizu, K.; Shimizu, K.; Taniguchi, N.; Gao, P.; Yamaguchi, E.; Hizawa, N.; Huang, Shau-Ku; Nishimura, M.
Year of Publication: 2010
Journal: BMC Med Genet
Volume: 11
Pagination: 151
Date Published: 10/2010
Publication Language: eng
ISSN: 1471-2350
Keywords: Adolescent, Adult, Aged, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Sarcoidosis

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.

DOI: 10.1186/1471-2350-11-151
Alternate Journal: BMC Med. Genet.
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