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Association of IL-1? rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.

ABSTRACT: Immune system dysregulation has been implicated to play a key role in pathogenesis of Tourette syndrome (TS). IL-1? 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-1? and IL-1RN and the susceptibility to TS in Chinese Han population.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-1? 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.No significant differences were observed in allelic and genotypic frequency of rs17561 in IL-1? and rs315952 in IL-1RN between the transmitted group and non-transmitted group (for IL-1? 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-1? 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).Our results suggest that IL-1? 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.

SUBMITTER: He F

PROVIDER: S-EPMC4466998 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association of IL-1α rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.

He Fan F Shao Xiaohui X Yi Mingji M Wang Yu Y Wang Chuan-Yue CY Liu Shiguo S

International journal of clinical and experimental pathology 20150401 4

<h4>Aim</h4>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.<h4>Methods</h4>A total of 276 children with TS and their parents were recruited in the study. All DNA from our subjects we ...[more]

PMID: 26097611

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Project description:BackgroundGilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonistic interactions between adenosine and dopamine transmission. The aim of the study was to analyze the association of two polymorphisms, rs2228079 in ADORA1 and rs5751876 in ADORA2A, with the risk of GTS and co-morbid disorders.Material and methodsA total of 162 Polish GTS patients and 270 healthy persons were enrolled in the study. Two polymorphisms were selected on the basis of knowledge of SNPs frequencies in ADORA1 and ADORA2A. Chi-square test was used for allelic and genotypic association studies. Association of genotypes with age of tic onset was analyzed with Mann-Whitney test. Multivariate logistic regression was used to find independent predictors of GTS risk.ResultsWe found that the risk of GTS was associated with rs2228079 and rs5751876 polymorphisms. The GG+GT genotypes of rs2228079 in ADORA1 were underrepresented in GTS patients (p = 0.011), whereas T allele of rs5751876 in ADORA2A was overrepresented (p = 0.017). The GG genotype of rs2228079 was associated with earlier age of tic onset (p = 0.046). We found also that the minor allele G of rs2228079 was more frequent in GTS patients with depression as compared to the patients without depression (p = 0.015). Also the genotype GG was significantly more frequent in patients with obsessive compulsive disorder/behavior (OCD/OCB, p = 0.021) and depression (p = 0.032), as compared to the patients without these co-morbidities. The minor allele T frequency of rs5751876 was lower in GTS patients with co-morbid attention deficit hyperactivity disorder (p = 0.022), and TT+TC genotypes were less frequent in the non-OCD anxiety disorder group (p = 0.045).ConclusionADORA1 and ADORA2A variants are associated with the risk of GTS, co-morbid disorders, and may affect the age of tic onset.

Dataset Information

Association of IL-1? rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.

Publications

Association of IL-1α rs17561 and IL-1 RN rs315952 polymorphisms with Tourette syndrome: a family-based study.

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