Kim Su Kang, Lee Jong Yoon, Park Hae Jeong, Kim Jong Woo, Chung Joo-Ho
Department of Pharmacology and Kohwang Medical Research Institute;
Exp Ther Med. 2012 May;3(5):881-885. doi: 10.3892/etm.2012.496. Epub 2012 Feb 23.
The aim of this study was to investigate whether par-3 partitioning defective 3 homolog (C. elegans) (PARD3) single nucleotide polymorphisms (SNPs) are associated with schizophrenia. A total of 204 Korean schizophrenic patients [117 male, 41.1±9.6 years (mean age ± SD); 87 female, 42.6±11.5] and 351 control subjects (170 male, 43.8±6.6 years; 181 female, 44.2±5.8) were enrolled. We genotyped nine SNPs of the PARD3 gene [rs7075263 (intron), rs10827392 (intron), rs773970 (intron), rs2252655 (intron), rs10763984 (intron), rs3781128 (Ser889Ser), rs1936429 (intron), rs671228 (intron) and rs16935163 (intron)]. Genotypes of PARD3 polymorphisms were evaluated by direct sequencing. We used SNPStats, SPSS 18.0 and Haploview 4.2 software for analysis of genetic data. Multiple logistic regression models were used to calculate the odds ratio (OR), 95% confidence interval (CI), and corresponding p-values (p), controlling for age and gender as covariables. Allele frequencies of the PARD3 SNPs were significantly associated with schizophrenia (rs3781128, p=0.041; rs1936429, p=0.030; rs671228, p=0.028). Certain genotype frequencies of the PARD3 SNPs also showed significant associations with schizophrenia (p<0.05, rs7075263, rs773970, rs2252655, rs10763984, rs3781128, rs1936429, rs16935163). To the best of our knowledge, this is the first report showing that PARD3 is associated with susceptibility to schizophrenia in a Korean population. In conclusion, our findings suggest that PARD3 may contribute to genetic susceptibility to schizophrenia.
本研究旨在调查PAR-3分割缺陷3同源物（秀丽隐杆线虫）（PARD3）单核苷酸多态性（SNP）是否与精神分裂症相关。共纳入204例韩国精神分裂症患者[117例男性，41.1±9.6岁（平均年龄±标准差）；87例女性，42.6±11.5岁]和351例对照者（170例男性，43.8±6.6岁；181例女性，44.2±5.8岁）。我们对PARD3基因的9个SNP进行了基因分型[rs7075263（内含子）、rs10827392（内含子）、rs773970（内含子）、rs2252655（内含子）、rs10763984（内含子）、rs3781128（Ser889Ser）、rs1936429（内含子）、rs671228（内含子）和rs16935163（内含子）]。通过直接测序评估PARD3多态性的基因型。我们使用SNPStats、SPSS 18.0和Haploview 4.2软件分析遗传数据。采用多因素logistic回归模型计算比值比（OR）、95%置信区间（CI）和相应的P值（P），将年龄和性别作为协变量进行控制。PARD3 SNP的等位基因频率与精神分裂症显著相关（rs3781128，P=0.041；rs1936429，P=0.030；rs671228，P=0.028）。PARD3 SNP的某些基因型频率也与精神分裂症显著相关（P<0.05，rs7075263、rs773970、rs2252655、rs10763984、rs3781128、rs1936429、rs16935163）。据我们所知，这是首次报道显示PARD3与韩国人群精神分裂症易感性相关。总之，我们的研究结果表明PARD3可能与精神分裂症的遗传易感性有关。
