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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Association between copy number variation of complement component C4 and Graves’ disease. | Liu et al. Journal of Biomedical Science 2011 18 71 http www.jbiomedsci.eom content 18 1 71 BIN sc The cost of publication in Journal of Biomedical Science Is borne by the National Science Council Taiwan JOURNAL OF BIOMEDICAL SCIENCE RESEARCH Open Access Association between copy number variation of complement component C4 and Graves disease 1 I I_Il I I I ỊỊ I 1 2 I I 1 A 1 3 s 1 5 6 A In I I -. I I s- 1 A Ị r-. L. I L. 2 1 I c. r I I f s I 3 I . z I_I- I I I 7 8 Yu-Huei Liu Lei wan Cnwen-izuei Chang vven-Ling Liao Vven-Chi Chen Yunsin isai Chang-Hai isai and Fuu-Jen Tsai1 3 7 9 10 11 Abstract Background Gene copy number of complement component C4 which varies among individuals may determine the intrinsic strength of the classical complement pathway. Presuming a major role of complement as an effecter in peptide-mediated inflammation and phagocytosis we hypothesized that C4 genetic diversity may partially explain the development of Graves disease GD and the variation in its outcomes. Methods A case-control study including 624 patients with GD and 160 healthy individuals were enrolled. CNV of C4 isotypes C4A and C4B genes were performed by quantitative real-time polymerase chain reaction analysis. Statistical comparison and identification of CNV of total C4 C4 isotypes C4A and C4B and C4 polymorphisms were estimated according to the occurrence of GD and its associated clinical features. Results Individuals with 4 2 and 2 copies of C4 C4A and C4B genes especially those with A2B2 polymorphism may associate with the development of GD p 0.001 OR 10.994 95 CI 6.277-19.255 p 0.008 OR 1.732 95 CI 1.190-2.520 p 2.420 X 10-5 OR 2.621 95 CI 1.791-3.835 and p 1.395 X 10 OR 2.671 95 CI 1.761-4.052 respectively . Although the distribution of copy number for total C4 C4 isotypes as well as C4 polymorphisms did not associate with the occurrence of goiter nodular hyperplasia GO and myxedema 2 copies of C4A may associate with high risk toward vitiligo in patients with GD p 0.001 OR
