Phosphoinositide-3-kinase regulatory subunit 1 gene polymorphisms are associated with schizophrenia and bipolar disorder in the Han Chinese population
Phosphoinositide-3-kinase regulatory subunit 1 gene polymorphisms are associated with schizophrenia and bipolar disorder in the Han Chinese population
复制标题
磷酸肌醇3激酶调节亚基1基因多态性与中国汉族人群精神分裂症和双相情感障碍相关
DOI：
10.1007/s11011-020-00552-z
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发表时间：
2020-03-19
影响因子：
3.6
通讯作者：
Su, Li
中科院分区：
文献类型：
--
作者：
Huang, Jiao;Chen, Zhaoxia;Su, Li
精神分裂症（SCZ）和双相情感障碍（BD）是严重的精神疾病，共享许多遗传风险因素。本研究旨在探讨磷酸肌醇-3-激酶调节亚基1（PIK 3R 1）基因rs3756668和rs3730089多态性与SCZ和BD风险的关系，并确定PIK 3R 1的表达水平。本研究共纳入548例SCZ病例、512例BD病例和598例健康对照。使用Sequenom MassARRAY平台对单核苷酸多态性（SNP）进行基因分型，并进行定量逆转录聚合酶链反应以检测PIK 3R 1的mRNA表达。BD组rs3756668基因型分布与健康对照组比较差异有统计学意义（P= 0.038）。校正性别和年龄后，rs3730089与SCZ的发病风险显著相关[AA/（AG + GG）：OR = 2.25，Padj = 0.040; AA/GG：OR = 2.27，Padj = 0.038]。SNP rs3756668与BD的易感性相关（AA+GG/AG：OR = 0.73，P = 0.011），调整性别和年龄后，该相关性仍然存在。BD患者PIK 3R 1 mRNA表达水平较对照组显著升高（P< 0.001）。PIK 3R 1对BD诊断价值的曲线下面积为0.809，敏感性为74.0%，特异性为73.9%，PIK 3R 1可能是SCZ和BD共有的易感基因，可能是BD潜在的诊断生物标志物。
Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share many genetic risk factors. This study aimed to investigate the association of phosphoinositide-3-kinase regulatory subunit1 (PIK3R1) gene rs3756668 and rs3730089 polymorphisms with SCZ and BD risks and determine the expression levels ofPIK3R1. A total of 548 SCZ cases, 512 BD cases, and 598 healthy controls were included in this study. Single nucleotide polymorphisms (SNPs) were genotyped using the Sequenom MassARRAY platform, and quantitative reverse transcription polymerase chain reaction was conducted to examine the mRNA expression ofPIK3R1. The genotypic distribution of rs3756668 in the BD group was significantly different from that in the healthy controls (P= 0.038). After adjustment for gender and age was made, rs3730089 was significantly associated with the risk of SCZ [AA/(AG + GG): OR = 2.25,Padj= 0.040; AA/GG: OR = 2.27,Padj= 0.038]. The SNP rs3756668 was associated with the susceptibility of BD (AA+GG/AG: OR = 0.73,P= 0.011) and the association remained after adjusting for gender and age. The mRNA level ofPIK3R1was significantly upregulated in patients with BD compared with that in the control group (P< 0.001). In terms of the diagnostic value ofPIK3R1for BD, the receiver operating characteristic curve analysis showed an area under the curve of 0.809 with 74.0% sensitivity and 73.9% specificity.PIK3R1may be the shared susceptibility gene of SCZ and BD and may be a potential diagnostic biomarker for BD.