Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran.
Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran.
Gene. 2019 May 5;695:99-100. doi: 10.1016/j.gene.2019.02.018. Epub 2019 Feb 12.
Previous studies revealed that polymorphisms in several DNA repair genes are associated with the risk of schizophrenia. The relationship between three polymorphisms (Ala499Val, PAT, and Lys939Gln) of the XPC (MIM: 613208) and the risk of schizophrenia is investigated. A total of 361 schizophrenia cases and 360 healthy controls were included in the study. Statistical analysis revealed that the Ala/Val genotype (OR = 0.62, P = 0.004) and the carriers of the Val allele (OR = 0.64, P = 0.006) were negatively associated with the risk of schizophrenia. The other two examined polymorphisms did not reveal significant association. The "Val - Lys" haplotype was associated with decrease risk of schizophrenia (OR = 0.71, P = 0.020). It has been showed that the haplotype "Val - Lys" had the lowest DNA damages, indicating that has higher DNA repair capacity. Here we found that this haplotype is associated with lower risk for schizophrenia.
先前的研究表明，几种 DNA 修复基因的多态性与精神分裂症的风险相关。本研究旨在探讨 XPC（MIM: 613208）中的三个多态性（Ala499Val、PAT 和 Lys939Gln）与精神分裂症风险之间的关系。共纳入 361 例精神分裂症病例和 360 例健康对照。统计分析显示，Ala/Val 基因型（OR=0.62，P=0.004）和 Val 等位基因携带者（OR=0.64，P=0.006）与精神分裂症风险呈负相关。另外两个检测到的多态性没有显示出显著的相关性。“Val-Lys”单倍型与降低精神分裂症的风险相关（OR=0.71，P=0.020）。已有研究表明，“Val-Lys”单倍型的 DNA 损伤最低，表明其具有更高的 DNA 修复能力。本研究发现，这种单倍型与较低的精神分裂症风险相关。
