title: Association of TLR7 and TSHR copy number variation with Graves' disease and Graves' ophthalmopathy in Chinese population in Taiwan.
abstract: BACKGROUND
  Graves' disease (GD) and Graves' ophthalmopathy (GO) are autoimmune disorders, which might be influenced by genetic factors. Copy number variation (CNV) is an important source of genomic diversity in humans, and influences disease susceptibility. This study investigated the association between CNV in the TSHR and TLR7 genes and the development of GD and GO in a Chinese population in Taiwan.
  
  
  METHODS
  For this case-control study, sample from 196 healthy controls and 484 GD patients, including 203 patients with GO were studied. CNV was detected by real-time polymerase chain reaction (PCR) using TaqMan™ probes and the relative copy number (CN) was estimated by using the comparative Ct method.
  
  
  RESULTS
  The differences in the distribution of TSHR CNV in healthy controls and GD patients were statistically significant (p value = 0.01). However, the difference in the distribution of TSHR CNV in the control group and the GO group was not statistically significant (p value = 0.06). For TLR7 CNV, the results were not significantly different when we compared the distribution in healthy controls and GD patients and in healthy controls and GO patients (p values for Fisher's exact test were 0.13 and 0.09, respectively). However, a lower than normal CNV for TLR7 (CNV < 2 for female and CNV < 1 for male) was found to have a protective effect against the development of GD (odds ratio (OR) = 0.24; 95% confidence interval (CI), 0.07-0.75) after adjusting for age and gender.
  
  
  CONCLUSIONS
  These results suggested that TSHR and TLR7 CNV might be associated with susceptibility to GD.
authors: Wen-Ling
authors: WL
authors: Liao
authors: Lei
authors: L
authors: Wan
authors: Tzu-Yuan
authors: TY
authors: Wang
authors: Ching-Chu
authors: CC
authors: Chen
authors: Siu-San
authors: SS
authors: Tse
authors: Chieh-Hsiang
authors: CH
authors: Lu
authors: Department of Medical Genetics and Medical Research, China Medical University Hospital, No,2 Yuh-Der Road, 404 Taichung City, Taiwan. d0704@www.cmuh.org.tw.
authors: Fuu-Jen
authors: FJ
authors: Tsai
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D056915:DNA Copy Number Variations; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000453:epidemiology / Q000235:genetics*; D049970:Graves Ophthalmopathy / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D060888:Real-Time Polymerase Chain Reaction; D011989:Receptors, Thyrotropin / Q000235:genetics*; D012307:Risk Factors; D013624:Taiwan; D051199:Toll-Like Receptor 7 / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin; C495348:TLR7 protein, human; D051199:Toll-Like Receptor 7