Zhang Ying, Su Nailun, Wang Guiju, Cui Jiajia, Yi Mingji, Liu Shiguo
Department of Child Health Care, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):646-9. doi: 10.3760/cma.j.issn.1003-9406.2014.01.024.
To assess the association between the serotonin transporter linked polymorphic region (5-HTTLPR) 44 bp variable number of tandem repeat (VNTR) polymorphism and Tourette syndrome (TS) in ethnic Han Chinese trios.
A total of 252 TS trios (patients and their parents) were recruited. Genetic contribution of the 5-HTTLPR 44 bp VNTR polymorphism was evaluated by genotyping, haplotype relative risk (HRR) analysis and transmission disequilibrium test (TDT) statistics. To enhance the efficiency of the test, haplotype-based HRR (HHRR) was also performed.
The TDT, HRR and HHRR analyses have revealed a significant association of the 5-HTTLPR 44 bp VNTR polymorphism with TS, and provided a strong evidence for an over-transmission of L allele from parents to the affected children (TDT: χ² = 6.680, df= 1, P= 0.012; HRR: χ² = 9.345, P= 0.002, OR= 1.739, 95% CI for 1.218-2.483). For 204 male and 48 female TS trios, TDT and HRR were analyzed separately. The results showed a significant association between 5-HTTLPR and male TS (for males. TDT: χ² = 4.643, df= 1, P= 0.038; for females, TDT: χ² = 2.189, df= 1, P= 0.188).
5-HTTLPR may be the susceptibility gene for male TS patients among the Chinese Han population. However, the results need to be replicated in datasets collected from different populations.
评估汉族三联体中血清素转运体相关多态性区域（5-HTTLPR）44bp可变串联重复序列（VNTR）多态性与抽动秽语综合征（TS）之间的关联。
共招募了252个TS三联体（患者及其父母）。通过基因分型、单倍型相对风险（HRR）分析和传递不平衡检验（TDT）统计评估5-HTTLPR 44bp VNTR多态性的遗传贡献。为提高检验效率，还进行了基于单倍型的HRR（HHRR）分析。
TDT、HRR和HHRR分析均显示5-HTTLPR 44bp VNTR多态性与TS存在显著关联，并为L等位基因从父母向患病子女的过度传递提供了有力证据（TDT：χ² = 6.680，自由度= 1，P = 0.012；HRR：χ² = 9.345，P = 0.002，OR = 1.739，95%置信区间为1.218 - 2.483）。对204个男性和48个女性TS三联体分别进行TDT和HRR分析。结果显示5-HTTLPR与男性TS之间存在显著关联（男性，TDT：χ² = 4.643，自由度= 1，P = 0.038；女性，TDT：χ² = 2.189，自由度= 1，P = 0.188）。
5-HTTLPR可能是中国汉族人群中男性TS患者的易感基因。然而，结果需要在不同人群收集的数据集中进行重复验证。
