School of Forensic Medicine, China Medical University, No. 77 Puhe Road, Shenbei New District, Shenyang, 110122, China.
J Mol Neurosci. 2020 Feb;70(2):155-166. doi: 10.1007/s12031-019-01399-5. Epub 2019 Aug 22.
The dopamine transporter is coded by the SLC6A3 gene and plays an important role in regulation of the neurotransmitter dopamine. To detect the association between the SLC6A3 gene and the risk of schizophrenia, 31 case-control articles were included in this meta-analysis. There were 23 studies with 40 bp VNTR (3246 cases and 3639 controls), 4 studies with rs40184 (2020 cases and 1674 controls), rs6347 (1317 cases and 1917 controls), rs403636 (2045 cases and 1704 controls), and rs2975226 (849 cases and 904 controls); and 3 studies with rs12516948 (1920 cases and 1569 controls), rs27072 (984 cases and 1015 controls), rs6869645 (1142 cases and 1082 controls), rs37022 (1168 cases and 1091 controls), rs464049 (1169cases and 1096 controls), rs2652511 (707 cases and 714 controls), and rs3756450 (1176 cases and 1096 controls). Pooled, subgroup, and sensitivity analyses were performed, and the results were visualized by forest and funnel plots. In the dominant genetic model, the genotype AA+AT of rs2975226 in the Indian population (P = 0, odds ratio [OR] = 3.245, 95% confidence interval [CI] = 1.806-5.831), TT of rs464049 (P = 0.002, OR = 1.389, 95% CI = 1.129-1.708), and TT of rs3756450 (P = 0.014, OR = 1.251, 95% CI = 1.047-1.495) might be risk factors for schizophrenia. Additionally, no other single nucleotide polymorphisms were observed. These results indicate that more functional studies are warranted.
多巴胺转运体由 SLC6A3 基因编码，在调节神经递质多巴胺方面发挥着重要作用。为了检测 SLC6A3 基因与精神分裂症风险之间的关联，本荟萃分析纳入了 31 项病例对照研究。其中 23 项研究涉及 40bp VNTR（3246 例病例和 3639 例对照）、4 项研究涉及 rs40184（2020 例病例和 1674 例对照）、rs6347（1317 例病例和 1917 例对照）、rs403636（2045 例病例和 1704 例对照）和 rs2975226（849 例病例和 904 例对照）；3 项研究涉及 rs12516948（1920 例病例和 1569 例对照）、rs27072（984 例病例和 1015 例对照）、rs6869645（1142 例病例和 1082 例对照）、rs37022（1168 例病例和 1091 例对照）、rs464049（1169 例病例和 1096 例对照）、rs2652511（707 例病例和 714 例对照）和 rs3756450（1176 例病例和 1096 例对照）。进行了合并、亚组和敏感性分析，并通过森林图和漏斗图进行了可视化。在显性遗传模型中，印度人群 rs2975226 的基因型 AA+AT（P=0，优势比[OR]=3.245，95%置信区间[CI]=1.806-5.831）、rs464049 的 TT（P=0.002，OR=1.389，95%CI=1.129-1.708）和 rs3756450 的 TT（P=0.014，OR=1.251，95%CI=1.047-1.495）可能是精神分裂症的危险因素。此外，没有观察到其他单核苷酸多态性。这些结果表明，需要进行更多的功能研究。
