Association study of myelin transcription factor 1-like polymorphisms with schizophrenia in Han Chinese population
Association study of myelin transcription factor 1-like polymorphisms with schizophrenia in Han Chinese population
复制标题
中国汉族人群髓磷脂转录因子1样多态性与精神分裂症的关联研究
DOI：
10.1111/j.1601-183x.2011.00734.x
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发表时间：
2012-02-01
影响因子：
2.5
通讯作者：
Lv, L. -X.
中科院分区：
文献类型：
--
作者：
Li, W.;Wang, X.;Lv, L. -X.
精神分裂症 (SZ) 的特点是各种复杂的阳性、阴性和认知症状，这些症状在个体患者中表现不同。症状表现的变异性表明多种基因（其中许多与神经发育有关）促成了精神分裂症的病因。髓磷脂转录因子 1 样 (MYT1L) 基因编码参与多种神经发育途径的 MYT1L 蛋白。 MYT1L 基因的拷贝数变异与 SZ 相关，MYT1L 的单核苷酸多态性 (SNP) 与重度抑郁症有关。为了探讨 MYT1L 多态性与 SZ 的关联，我们在由 528 名偏执型精神分裂症患者和 528 名健康受试者组成的中国汉族人群中检测了 MYT1L 的 6 个 SNP。我们的结果表明，即使经过 Bonferroni 校正，rs17039584 仍与 SZ (A>G) 显着相关。当按性别划分受试者时，rs10190125 等位基因和基因型仍然与女性患者中的 SZ 显着相关。此外，我们发现 rs6742365 与女性 SZ 家族史相关。其他 SNP 对 SZ 没有达到统计显着性，但与个体表型相关，如通过阳性和阴性综合征量表 (PANSS) 库存测量。我们的研究结果表明，MYT1L 可能代表中国汉族人群中 SZ 的易感基因，并表明特定的 SNP 可能会增加女性的易感性。
Schizophrenia (SZ) is characterized by a variety of complex positive, negative and cognitive symptoms that are differentially expressed in individual patients. Variability in symptom presentation indicates that multiple genes, many involved in neurodevelopment, contribute to the etiology of SZ. The myelin transcription factor 1-like (MYT1L) gene encodes the MYT1L protein that participates in several neurodevelopment pathways. The copy number variant of MYT1L gene is associated with SZ, and single-nucleotide polymorphisms (SNPs) of MYT1L contribute to major depressive disorder. To explore the association of MYT1L polymorphisms with SZ, we examined six SNPs of MYT1L in a Han Chinese population consisting of 528 paranoid schizophrenic patients and 528 healthy subjects. Our results showed that rs17039584 was significantly associated with SZ (A>G), even after Bonferroni correction. When subjects were divided by gender, the rs10190125 allele and genotype remained significantly associated with SZ in female patients. Moreover, we found that rs6742365 was associated with a family history of SZ in females. Other SNPs did not achieve statistical significance for SZ but were associated with individual phenotypes, as measured by the Positive and Negative Syndrome Scale (PANSS) inventory. Our findings suggest that MYT1L may represent a susceptibility gene for SZ in the Han Chinese population and show that a specific SNP may increase susceptibility in females.