title: TLR4 rs41426344 increases susceptibility of rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population.
abstract: BACKGROUND
  The aim of the study was to determine whether polymorphisms in toll-like receptor 4 (TLR4) confer susceptibility to rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population.
  
  
  METHODS
  Genotyping for six well studied polymorphisms (rs4986790, rs4986791, rs10759932, rs41426344, rs11536889 and rs7873784) in TLR4 gene were conducted in 1074 unrelated patients with RA and 1692 healthy control subjects, as well as in 217 unrelated patients with JIA and 378 healthy control subjects using direct sequencing technique. Comparisons between cases and controls in alleles, genotypes and haplotypes were carried out using Fisher's exact test.
  
  
  RESULTS
  Significant genetic associations were detected between the 3'UTR rs41426344C and RA (p < 0.001, padj< 0.001, OR = 2.24) and JIA (p < 0.001, padj< 0.001, OR = 2.05). In addition, rs4986790G was found to be significantly associated with the susceptibility for RA (p = 0.005, padj= 0.03, OR = 3.43), but not for JIA (p = 0.06, padj= 0.36, OR = 2.65). Furthermore, significant increasing in the distributions of haplotypes H4 and H10 in RA (H4: p = 0.001, OR = 1.13; H10: p = 0.001, OR = 1.15) and JIA (H4: p = 0.04, OR = 2.06; H10: p = 0.02, OR = 2.47) were also found. Moreover, the frequency of rs41426344C significantly increased in RF-positive and anti-CCP positive subjects both in RA (RF+: p <0.0001, OR = 2.33; anti-CCP+: p =0.008, OR = 2.79) and JIA (RF+: p =0.02, OR = 2.91; anti-CCP+: p = 0.02, OR = 2.78).
  
  
  CONCLUSIONS
  Our study suggested that rs41426344 and rs4986790 of TLR4 might contribute to RA, and rs41426344 might contribute to JIA pathogenesis in central south Chinese Han population.
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.|Experiment center for Function, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.|Experiment center for Function, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Lianghui
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Meihua
authors.initials: M
authors.lastname: Bao
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Ju
authors.initials: J
authors.lastname: Xiang
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China.|Experiment center for Function, Changsha Medical University, Changsha, People's Republic of China.
authors.forename: Huaiqing
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China.|Department of Neurology, Xiang-ya Hospital, Central South University, Changsha City, Hunan Province, China.
authors.forename: Jianming
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Human Anatomy, Histology and Embryology, Institute of Neuroscience, Changsha Medical University, No. 1501 Lei Feng Road,, Wangcheng District, Changsha City, Hunan Province, 410219, People's Republic of China. tlcool318@163.com.|School of Basic Medical Science, Changsha Medical University, Changsha, People's Republic of China. tlcool318@163.com.
authors.forename: Liang
authors.initials: L
authors.lastname: Tang
mesh_terms: D000328:Adult; D001171:Arthritis, Juvenile / Q000235:genetics*; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000187:drug effects*; D051197:Toll-Like Receptor 4 / Q000235:genetics*
chemical_list: C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4
keywords: Chinese Han population; Genetic association; Juvenile idiopathic arthritis (JIA); Rheumatoid arthritis (RA); Toll like receptors 4 (TLR4)