Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Republic of Korea.
Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):67-71. doi: 10.1002/ajmg.b.31139. Epub 2010 Nov 2.
Schizophrenia is a multifactorial disorder and smooth pursuit eye movement (SPEM) disturbance is proposed as one of the most consistent neurophysiological endophenotype in schizophrenia. The aim of this study was to examine the genetic association of RANBP1 polymorphisms with the risk of schizophrenia and with the risk of SPEM abnormality in schizophrenia patients in a Korean population. Two SNPs of RANBP1 were genotyped by TaqMan assay. Their genetic effect of single/haplotype polymorphisms on the risk of schizophrenia and SPEM abnormality from 354 patients and 396 controls were performed using χ² and multiple regression analyses. Although no RANBP1 polymorphisms were associated with the risk of schizophrenia, a common haplotype, RANBP1-ht2 (rs2238798G-rs175162T), showed significant association with the risk of SPEM abnormality among schizophrenia patients after multiple correction (P(corr) = 0.002-0.0003). The results of present study provide the evidence that RANBP1 on 22q11.21 locus might be causally related to the SPEM abnormality rather than the development of schizophrenia.
精神分裂症是一种多因素疾病，平滑追随眼动（SPEM）障碍被认为是精神分裂症中最一致的神经生理内表型之一。本研究旨在探讨 RANBP1 多态性与韩国人群精神分裂症发病风险及精神分裂症患者 SPEM 异常的遗传相关性。采用 TaqMan 法对 RANBP1 的两个 SNP 进行基因分型。使用 χ²和多元回归分析，从 354 例患者和 396 例对照中分析 RANBP1 单/单倍型多态性的遗传效应对精神分裂症和 SPEM 异常风险的影响。尽管 RANBP1 多态性与精神分裂症发病风险无关，但在经过多次校正后（P(corr) = 0.002-0.0003），一种常见的单倍型 RANBP1-ht2(rs2238798G-rs175162T)与精神分裂症患者的 SPEM 异常风险显著相关。本研究结果提供了证据，表明 22q11.21 位点上的 RANBP1 可能与 SPEM 异常有关，而不是与精神分裂症的发生有关。
