title: Association of IL-1α rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.
abstract: OBJECTIVE
  Immune system dysregulation has been implicated to play a key role in pathogenesis of Tourette syndrome (TS). IL-1α and IL-1RN are important inflammatory cytokines that mediate the inflammation. In this study, we investigated the relationship between single-nucleotide polymorphisms (SNPs) of IL-1α and IL-1RN and the susceptibility to TS in Chinese Han population.
  
  
  METHODS
  A total of 276 children with TS and their parents were recruited in the study. All DNA from our subjects were genotyped for SNPs of IL-1α rs17561 and IL-1RN rs315952 using predesigned TaqMan SNP genotyping assay. The genetic contributions of two polymorphisms were evaluated using transmission disequilibrium test (TDT) and haplotype relative risk (HRR) design. In addition, to increase the efficiency of the test, the haplotype-based HRR (HHRR) was performed.
  
  
  RESULTS
  No significant differences were observed in allelic and genotypic frequency of rs17561 in IL-1α and rs315952 in IL-1RN between the transmitted group and non-transmitted group (for IL-1α rs17561: TDT=0.890, df=1, P=0.402; HRR=1.011, X(2)=3.016, P=0.082, 95% CI=0.999-1.024; for IL-1RN rs315952: TDT=0.095, df=1, P=0.805; HRR=0.984, X(2)=0.008, P=0.929, 95% CI=0.695-1.394). Similarly, the analysis of HHRR also did not support a significant association (for IL-1α rs17561: HHRR=1.226, X(2)=0.915, P=0.339, 95% CI=0.807-1.863; for IL-1RN rs315952: HHRR=0.963, X(2)=0.094, P=0.759, 95% CI=0.758-1.225).
  
  
  CONCLUSIONS
  Our results suggest that IL-1α rs17561 and IL-1RN rs315952 polymorphisms may not be associated with susceptibility to TS in Chinese Han population. However, the results still need to be replicated in a larger sample size and different populations.
authors.affiliation: Beijing Anding Hospital, Capital Medical University Beijing 100088, China ; Center of Schizophrenia, Laboratory of Brain Disorders, Beijing Institute for Brain Disorders, Capital Medical University Beijing 100069, China.
authors.forename: Fan
authors.initials: F
authors.lastname: He
authors.affiliation: Department of Child Healthcare, The Affiliated Hospital of Medical College, Qingdao University Qingdao 266003, China.
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Shao
authors.affiliation: Department of Child Healthcare, The Affiliated Hospital of Medical College, Qingdao University Qingdao 266003, China.
authors.forename: Mingji
authors.initials: M
authors.lastname: Yi
authors.affiliation: Department of Spine Surgery, The Affiliated Hospital of Medical College, Qingdao University Qingdao 266003, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Beijing Anding Hospital, Capital Medical University Beijing 100088, China ; Center of Schizophrenia, Laboratory of Brain Disorders, Beijing Institute for Brain Disorders, Capital Medical University Beijing 100069, China.
authors.forename: Chuan-Yue
authors.initials: CY
authors.lastname: Wang
authors.affiliation: Genetic Laboratory, The Affiliated Hospital of Qingdao University Qingdao 266003, China.
authors.forename: Shiguo
authors.initials: S
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D040941:Heredity; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics*; D053582:Interleukin-1alpha / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D005879:Tourette Syndrome / Q000208:ethnology / Q000235:genetics* / Q000276:immunology
chemical_list: C508584:IL1A protein, human; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D053582:Interleukin-1alpha
keywords: IL-1RN; IL-1α; TDT; Tourette syndrome