The Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, China.
Int J Psychiatry Med. 2023 Sep;58(5):433-448. doi: 10.1177/00912174231164669. Epub 2023 Mar 17.
Genetic factors play an important role in the etiology of schizophrenia (SZ). Catenin Delta 2 (CTNND2) is one of the genes regulating neuronal development in the brain. It is unclear whether CTNND2 is involved in SZ. With the hypothesis that CTNND2 may be a risk gene for SZ, we performed a case-control association analysis to investigate if CTNND2 gene single nucleotide polymorphisms (SNPs) are implicated in SZ in a Han Chinese population.
We recruited subjects from 2010 to 2022 from the Han population of northern Henan and divided them into two case-control samples, including a discovery sample (SZ = 528 and controls = 528) and replication sample (SZ = 2458 and controls = 6914). Twenty-one SNPs were genotyped on the Illumina BeadStation 500G platform using GoldenGate technology and analyzed by PLINK. The Positive and Negative Syndrome Scale (PANSS) was used to assess clinical symptoms.
Rs16901943, rs7733427, and rs2168878 SNPs were associated with SZ (Chi = 7.484, 11.576, and 5.391, respectively, df = 1; = 0.006, 0.00067, and 0.02, respectively) in the two samples. Rs10058868 was associated with SZ in male patients in the discovery sample (Chi = 6.264, df = 1, = .044). Only the relationship with rs7733427 survived Bonferroni correction. Linkage disequilibrium block three haplotypes were associated with SZ in the discovery and total sample. PANSS analysis of the four SNPs implicated rs10058868 and rs2168878 in symptoms of depression and excitement, respectively, in the patients with SZ.
Four SNPs of the CTNND2 gene were identified as being correlated with SZ. This gene may be involved in susceptibility to SZ.
遗传因素在精神分裂症（SZ）的发病机制中起着重要作用。连环蛋白 Delta 2（CTNND2）是调节大脑神经元发育的基因之一。目前尚不清楚 CTNND2 是否与 SZ 有关。基于 CTNND2 可能是 SZ 的风险基因这一假设，我们进行了病例对照关联分析，以调查汉族人群中 CTNND2 基因单核苷酸多态性（SNPs）是否与 SZ 有关。
我们于 2010 年至 2022 年从河南北部汉族人群中招募受试者，将其分为两个病例对照样本，包括发现样本（SZ=528，对照=528）和复制样本（SZ=2458，对照=6914）。使用 GoldenGate 技术在 Illumina BeadStation 500G 平台上对 21 个 SNPs 进行基因分型，并使用 PLINK 进行分析。阳性和阴性综合征量表（PANSS）用于评估临床症状。
rs16901943、rs7733427 和 rs2168878 三个 SNP 与两个样本中的 SZ 相关（Chi=7.484、11.576 和 5.391，df=1，=0.006、0.00067 和 0.02）。rs10058868 与发现样本中男性患者的 SZ 相关（Chi=6.264，df=1，=0.044）。只有 rs7733427 与 Bonferroni 校正相关。发现样本和总样本中，连锁不平衡块 3 个单体型与 SZ 相关。四个 SNP 的 PANSS 分析表明，rs10058868 和 rs2168878 分别与 SZ 患者的抑郁和兴奋症状相关。
CTNND2 基因的四个 SNP 被确定与 SZ 相关。该基因可能参与 SZ 的易感性。
