The cost of publication in Journal of Biomedical Science is borne by the National Science Council, Taiwan.
Research
Association between copy number variation of complement component C4 and Graves' disease
1 Department of Medical Genetics and Medical Research, China Medical University Hospital, Taichung, Taiwan
2 Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan
3 School of Chinese Medicine, China Medical University, Taichung, Taiwan
4 Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan
5 Division of Endocrinology and Metabolism, Department of Medicine, China Medical University Hospital, Taichung, Taiwan
6 Department of Endocrinology and Metabolism, College of Chinese Medicine, China Medical University, Taichung, Taiwan
7 Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
8 Department of Biotechnology, Asia University, Taichung, Taiwan
9 School of Post-Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan
10 Department of Biotechnology, Asia University, Taichung, Taiwan
11 Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan
Journal of Biomedical Science 2011, 18:71 doi:10.1186/1423-0127-18-71
Published: 26 September 2011Abstract
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 × 10-5, OR = 2.621, 95% CI: 1.791-3.835; and p = 1.395 × 10-4, 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 = 5.579, 95% CI: 1.659-18.763).
Conclusions
These results may be further estimated for its clinical application on GD and the vitiligo in patients with GD.
