SLC5A7基因 rs1013940位点多态性与 Tourette 综合征的关联分析

Association of rs1013940 polymorphism in SLC5A7 with Tourette syndrome in Chinese Han popula-tion

目的：探讨SLC5A7（ Solute carrier family 5，member 7）基因rs1013940位点单核苷酸多态性与中国汉族人群Tourrette综合征（ Tourette syndrome，TS）发病的关联性。方法采用实时荧光定量PCR技术对来自中国汉族人群的401个TS核心家系SLC5A7基因rs1013940位点多态性进行检测，传递不平衡检验（ transmission dsequilibrium test，TDT）和单倍体相对风险分析（ haplotype relative risk，HRR）方法分析该多态性位点的遗传分布与TS的关系，应用基于单倍型的单倍型相对风险分析（haplotype-based HRR，HHRR）进行验证。结果 TDT和HRR结果均表明，SLC5A7基因rs1013940位点与TS之间不存在明显关联（ TDT：χ2＝0．268， P＝0．657， OR＝0．728，95％CI ＝0．366～1．451；HRR：χ2＝0．111， P＝0．739， OR＝0．959，95％CI ＝0．762～1．466）。 HHRR结果同样表明，两者之间差异无统计学意义（ HHRR：χ2＝0．276， P＝0．599， OR＝1．082，95％CI ＝0．806～1．453）。结论 SLC5A7基因rs1013940位点基因多态性与中国汉族人群TS的发病无明显关联，但仍需在不同种族中进行验证。

Objective To investigate the association between rs1013940 in SLC5A7 and Tourette Syndrome （ TS） in Chinese Han population.Methods Polymorphism was genotyped in 401 TS nuclear fam-ilies trios from china by real-time fluorescent quantitive PCR.Transmission disequilibrium test （ TDT） and Haplotype relative risk （ HRR ） were used to analyze the association between the genetic distrbution of rs1013940 and TS and the results were verified by haplotype-based haplotype relative risk（ HHRR） .Results No transmission disequilibrium was found between rs1013940 in SLC5A7 and TS by TDT and HRR（ TDT：χ2=0.268, P=0.657, OR=0.728,95%CI=0.366-1.451;HRR：χ2=0.111, P=0.739, OR=0.959,95%CI=0.762-1.466） .HHRR also indicated the same result （ HHRR：χ2=0.276, P=0.599, OR=1.082,95%CI=0.806-1.453） .Conclusion The result reveals that there is no significant association between rs1013940 in SLC5A7 and TS in Chinese Han population.However,the results need to be further validated in different populations.