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Báo cáo y học: "Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL40 in Danish patients with rheumatoid arthritis and in healthy subjects"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL40 in Danish patients with rheumatoid arthritis and in healthy subjects. | Nielsen et al. Arthritis Research Therapy 2011 13 R109 http arthritis-research.eom content 13 3 R109 RESEARCH ARTICLE Open Access Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL-40 in Danish patients with rheumatoid arthritis and in healthy subjects Kaspar R Nielsen1 Rudi Steffensen1 Martin Boegsted2 John Baech1 Soeren Lundbye-Christensen3 Merete L Hetland4 Sophine B Krintel4 5 Hans E Johnsen2 Mette Nyegaard2 and Julia S Johansen5 6 Abstract Introduction The present study investigates the association between single nucleotide polymorphisms SNPs in the chitinase 3-like 1 CHI3L1 gene and serum concentrations of YKL-40 in Danish patients with rheumatoid arthritis RA and healthy controls as well as the association with RA in the Danish population. The CHI3L1 gene is located on chromosome 1q32.1 and encodes the YKL-40 glycoprotein. YKL-40 concentrations are elevated in the serum of patients with RA compared to healthy subjects and YKL-40 has been suggested to be an auto-antigen and may play a role in development of RA and in inflammation. Methods Eight SNPs in the CHI3L1 gene and promotor were genotyped in 308 patients with RA and 605 controls healthy blood donors using TaqMan allele discrimination assays. Serum concentrations of YKL-40 were determined by an enzyme-linked immunosorbent assay ELISA . Results We found significant association between the serum concentrations of YKL-40 and polymorphism in the CHI3L1 gene among both patients with RA and controls. The g.-131 C G polymorphism rs4950928 was most strongly associated with age adjusted serum concentrations of YKL-40 in patients with RA P 2.4e-8 and controls P 2.2e-16 . No significant allelic- or genotypic association with RA was found in this Danish cohort. Conclusions We suggest that the g.-131 C G promoter polymorphism has a substantial impact on serum concentrations of YKL-40 in patients with RA and healthy subjects. However the polymorphism does not seem to confer