Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Gene. 2020 Apr 15;734:144390. doi: 10.1016/j.gene.2020.144390. Epub 2020 Jan 24.
Schizophrenia is a stressful, chronic and in many cases incorrigible psychological disorder. Till now no biomarker is available for diagnosis of this condition and diagnosis is done purely on psychiatric bases. A strong genetic association of human genome region 1q24.1 is implicated with onset of schizophrenia in many studies. Present study is first from Pakistan to report effect of this locus in transmission and liaison of schizophrenia in Pakistani population. For this analysis 300 samples were genotyped of four SNPs, rs1417584, rs1954175, rs821616 and rs113012343 that were selected on basis of minor allele frequency and effects on schizophrenia. Haplotype and transmission disequilibrium analysis was also performed on data. Association of SNPs revealed a significant relation between MAF of rs1417584 and schizophrenia in given samples (χ 5.57; p 0.02). Haplotype association led to formation of three significant blocks TCAG (OR 20.06), TTAG (OR 4.65) and CCTG (OR 26.17) for rs1417584, rs1954175, rs821616 and rs113012343 that were expected to cause schizophrenia in said combinations. rs1417584, rs1954175 and rs821616 were found to be in a linkage block based on D' value (p < 0.0001) with 22% co inheritance alongside disease onset. This block was represented by 325 kb on chromosome 1. It is concluded from this study that this 325 Kb region can be considered prognostic marker for schizophrenia development in Pakistani population.
精神分裂症是一种压力大、慢性且在许多情况下无法治愈的心理障碍。到目前为止，还没有可用于诊断这种疾病的生物标志物，诊断纯粹是基于精神病学基础。许多研究表明，人类基因组区域 1q24.1 的强烈遗传关联性与精神分裂症的发病有关。本研究是巴基斯坦首次报告该基因座在巴基斯坦人群精神分裂症的传递和关联性中的作用。为此，对 300 个样本进行了四个单核苷酸多态性(rs1417584、rs1954175、rs821616 和 rs113012343)的基因分型，这些单核苷酸多态性是基于次要等位基因频率和对精神分裂症的影响选择的。还对数据进行了单体型和传递不平衡分析。单核苷酸多态性的关联显示，在给定样本中，rs1417584 的 MAF 与精神分裂症之间存在显著关系(χ 5.57;p 0.02)。单体型关联导致形成三个显著的 TCAG(rs1417584、rs1954175、rs821616 和 rs113012343 的 OR 20.06)、TTAG(rs1417584、rs1954175、rs821616 和 rs113012343 的 OR 4.65)和 CCTG(rs1417584、rs1954175、rs821616 和 rs113012343 的 OR 26.17)，这些组合预计会导致精神分裂症的发生。rs1417584、rs1954175 和 rs821616 基于 D'值(p<0.0001)被发现处于连锁块中，与疾病发病时的 22%共遗传。该块在染色体 1 上代表 325kb。综上所述，该 325kb 区域可被视为巴基斯坦人群精神分裂症发展的预后标志物。
