Abstract

This study aimed to find the potential association between HSPA1B polymorphisms and risk of paranoid schizophrenia, clinical variables of the disease, and suicidal behavior. A total of 901 unrelated Polish subjects of Caucasian origin (377 schizophrenia patients and 524 controls) were recruited. Four single-nucleotide polymorphisms (SNP) were genotyped using PCR–RFLP (rs539689, rs9281590) and TaqMan assays (rs263979, rs6547452). A strong tendency towards statistical significance (p = 0.051) was observed in rs539689 allele distribution between patients and controls in overall study subjects. After stratification according to gender, we found that rs539689 was significantly associated with schizophrenia in males, but not in females. The minor allele C had a protective effect in males [OR 0.73 (95% CI 0.61–0.88, p < 0.05)]. In addition, two SNPs (rs539689, rs9281590) were significantly associated with PANSS scores. Another important finding was a strong significant association between the HSPA1B rs539689 polymorphism and attempted suicide in schizophrenic patients. The C/C genotype and C allele were protective against suicidal behavior in entire sample (p < 0.001), in males (p < 001), and in females (p < 0.05), although associations were weaker than in males. Our findings support that HSPA1B gene may be involved in susceptibility to schizophrenia and clinical presentation of the disease in a sex-dependent manner, and may play a role in suicidal behavior in the Polish population of schizophrenic patients. Further independent analyses in different populations should be performed to clarify the role of HSPA1B in the pathogenesis of schizophrenia.

中文翻译：

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HSPA1B基因多态性与波兰人群中偏执型精神分裂症的关系

摘要

本研究旨在发现HSPA1B多态性与偏执型精神分裂症风险，疾病的临床变量和自杀行为之间的潜在关联。总共招募了901名白种人无关的波兰受试者（377例精神分裂症患者和524例对照）。使用PCR-RFLP（rs539689，rs9281590）和TaqMan分析（rs263979，rs6547452）对四个单核苷酸多态性（SNP）进行基因分型。有统计学意义的强烈趋势（p 在整个研究对象的患者和对照之间的rs539689等位基因分布中观察到= 0.051）。根据性别分层后，我们发现rs539689与男性的精神分裂症显着相关，而女性则没有。较小的等位基因C对男性具有保护作用[OR 0.73（95％CI 0.61-0.88，p  <0.05）。此外，两个SNP（rs539689，rs9281590）与PANSS得分显着相关。另一个重要的发现是之间有很强的关联显著HSPA1B rs539689多态性与自杀未遂的精神分裂症患者。C / C基因型和C等位基因在整个样本（p  <0.001），男性（p  <001）和女性（p  <0.05），尽管关联性比男性弱。我们的发现支持HSPA1B基因可能以性别依赖性的方式参与精神分裂症的易感性和该疾病的临床表现，并且可能在波兰的精神分裂症患者群体的自杀行为中起作用。应在不同人群中进行进一步的独立分析，以阐明HSPA1B在精神分裂症发病机理中的作用。