突触体维系蛋白-25基因与注意缺陷多动障碍的关系

Association study of synaptosomal-associated protein 25 gene and attention deficit hyperactivity disorder

目的探讨突触体维系蛋白-25(SNAP-25)基因3′端未翻译区 T1065G 和 T1069C 多态性位点与注意缺陷多动障碍(ADHD)的关系。方法采用聚合酶链反应-限制性片段长度多态性技术,检测138例 ADHD 患者(患者组)和119名对照者(对照组)基因型和等位基因频率。结果 (1)患者组与对照组 SNAP-25基因 T1065G 多态性基因型及等位基因频率的总体分布差异有统计学意义(P<0.05),其中患者组1065T/1065T 基因型(70.3%)和1065T 等位基因频率(84.1%)高于对照组(分别为56.3%和74.4%;P<0.05);患者组1065G/1065G 基因型频率(2.2%)略低于对照组(7.6%),但差异无统计学意义(P=0.07)。(2)SNAP-25基因 T1069C 多态性,两组均为1069T 等位基因(100%,100%),均未发现1069C 等位基因。结论 SNAP-25基因 T1065G 多态性与 ADHD 可能存在关联,1065T/1065T 基因型和1065T 等位基因可能是 ADHD 发病的危险因素。

Objective To investigate the relationship between T1065G and T1069C polymorphism in synaptosomal-associated protein 25 （SNAP-25） gene and attention deficit hyperactivity disorder （ADHD）. Methods The genotypes and alleles in 138 patients with ADHD and 119 normal controls were examined with polymerase chain reaction and restriction fragment length polymorphism technique. The significance for the association was estimated by X^2 test. Results （ 1 ） There were significant differences in the frequencies of the genotypes and alleles between patients and controls （ P 〈 0. 05 ）. The frequency of 1065T homozygous genotype （70.3%） and 1065T allele （84. 1% ） in patients was higher than that in controls （56. 3%, 74.4% ;P 〈0.05 ）. The frequency of homozygous 1065G genotype in patients （2.2%） was lower than that in controls [ 7. 6% ; P = 0. 07 （ Fisher＇s exact test） ]. （2） Only the I069T allele of T1069C polymorphism in SNAP-25 gene was found in patients （ 100% ） and controls （ 100% ）. Conclusion The T1065G polymorphism in the SNAP-25 gene may be associated with ADHD in Hunan Han population. The presence of the homozygous genotype of T1065T and 1065T allele appears to be associated with an increased risk for ADHD.