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Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population

机译:色氨酸羟化酶2基因多态性参与中国汉族人群抽动症的易感性

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Background Tryptophan hydroxylase-2 (TPH2) is a potential candidate gene for screening tic disorder (TD). Methods A case–control study was performed to examine the association between the TPH2 gene and TD. The Sequenom? Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs) of the TPH2 gene in 149 TD children and in 125 normal controls. Results For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR) =3.077, 95% confidence interval (CI): 1.273–7.437; P?=?0.009], as did male TD children with the TT genotype (OR?=?3.228, 95% CI: 1.153–9.040; P?=?0.020). The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS) than those in controls among the male children (OR?=?1.684, 95%: 1.097–2.583; P?=?0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR?=?3.292, 95% CI: 1.139–9.513; P?=?0.022). We also found that genotype distributions of both SNPs were different between the Asian and European populations. Conclusions Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD),these findings need to be confirmed by studies in much larger samples.
机译:背景色氨酸羟化酶2(TPH2)是筛查抽动障碍(TD)的潜在候选基因。方法进行病例对照研究,检查TPH2基因与TD之间的关系。 Sequenom?使用Mass ARRAY iPLEX GOLD系统对149名TD儿童和125名正常对照的TPH2基因的两个单核苷酸多态性(SNP)进行基因分型。结果对于rs4565946,具有TT基因型的个体显示出TD的风险显着高于具有TC和CC基因型的个体[几率(OR)= 3.077,95%置信区间(CI):1.273–7.437; P?=?0.009],与具有TT基因型的男性TD儿童一样(OR?=?3.228,95%CI:1.153-9.040; P?=?0.020)。 rs4570625的G等位基因在抽搐症状较高的TD儿童(耶鲁全球性抽动严重程度量表,YGTSS)中比在男性儿童中显着更高(OR?=?1.684,95%:1.097-2.583; P ?=?0.017]。患有严重抽搐症状的TD儿童的rs4546946 TT基因型频率明显高于男孩正常对照组(OR?=?3.292,95%CI:1.139–9.513; P?=?0.022)。结论我们的结果表明rs4565946的TT基因型是TD的潜在遗传危险因素,而rs4570625的等位基因G可能与抽动症状的严重性有关。这些多态性可能是中国汉族人群TD的易感基因位点,由于并存的注意力缺陷多动障碍(ADHD)的混杂,这些发现需要通过大量样本的研究来证实。

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