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STX1A 基因变异与儿童注意缺陷多动障碍的易感性有关:一项病例对照关联研究。

STX1A gene variations contribute to the susceptibility of children attention-deficit/hyperactivity disorder: a case-control association study.

机构信息

Key Laboratory of Environment and Health, Ministry of Education and Ministry of Environmental Protection, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, No. 13, Hangkong Road, Wuhan, 430030, People's Republic of China.

Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

出版信息

Eur Arch Psychiatry Clin Neurosci. 2019 Sep;269(6):689-699. doi: 10.1007/s00406-019-01010-3. Epub 2019 Apr 11.

Abstract

It was presumed syntaxin-1A (STX1A) might relate to the pathophysiology of attention-deficit/hyperactivity disorder (ADHD), but the results were inconsistent. The present study aims to confirm whether the STX1A gene is involved in the susceptibility of children ADHD. We genotyped three single nucleotide polymorphisms (SNPs) of STX1A gene using Sequenom MassARRAY technology. A case-control study was performed among Chinese Han population including 754 cases and 772 controls from two different provinces. The Conners Parent Symptom Questionnaire and Integrated Visual and Auditory Continuous Performance Test were used to assess ADHD clinical symptoms. We found for the first time that rs3793243 GG genotype carriers had a lower risk of ADHD compared with AA genotype (OR 0.564, 95% confidence interval (CI) 0.406-0.692, P = 0.001), and rs875342 was also associated with children ADHD (OR 1.806, 95% CI 1.349-2.591, P = 0.001). In addition, the two positive SNPs were also significantly associated with the clinical characteristics of ADHD. Expression quantitative trait loci analysis indicated that rs3793243 might mediate STX1A gene expression. Using a case-control study to explore the association between STX1A gene and children ADHD in Chinese Han population, our results suggest STX1A genetic variants might contribute to the susceptibility of children ADHD.

摘要

推测突触结合蛋白 1A(STX1A)可能与注意缺陷多动障碍(ADHD)的病理生理学有关,但结果不一致。本研究旨在确认 STX1A 基因是否参与儿童 ADHD 的易感性。我们使用 Sequenom MassARRAY 技术对 STX1A 基因的三个单核苷酸多态性(SNP)进行了基因分型。在来自两个不同省份的 754 例病例和 772 例对照的中国汉族人群中进行了病例对照研究。采用 Conners 父母症状问卷和综合视觉听觉连续绩效测试评估 ADHD 临床症状。我们首次发现 rs3793243 GG 基因型携带者患 ADHD 的风险较 AA 基因型降低(OR 0.564,95%置信区间(CI)0.406-0.692,P=0.001),rs875342 也与儿童 ADHD 相关(OR 1.806,95%CI 1.349-2.591,P=0.001)。此外,这两个阳性 SNP 也与 ADHD 的临床特征显著相关。表达数量性状基因座分析表明 rs3793243 可能介导 STX1A 基因表达。本研究采用病例对照研究探讨中国汉族人群 STX1A 基因与儿童 ADHD 的相关性,结果表明 STX1A 基因变异可能导致儿童 ADHD 的易感性。

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