Department of Pediatrics, The First Affiliated Hospital of Medical Collage of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China.
School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an 710061, Shaanxi, China.
Biomed Environ Sci. 2018 Apr;31(4):322-326. doi: 10.3967/bes2018.042.
A case-control study was conducted to investigate associations between organophosphate pesticide (OP) exposure, aggression, impulsivity, and attempted suicide. The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) in COL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry. Our results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the KBD and control groups (P = 0.0003). Moreover, the expression level of COL11A in cartilage was significantly lower in the KBD group than in the controls (t = 2.637, P = 0.02). However, no association was found between the rs2229783 and the severity of KBD, suggesting a role of COL11A1 in the susceptibility to but not the severity of KBD.
一项病例对照研究旨在探讨有机磷农药（OP）暴露、攻击性行为、冲动和自杀未遂之间的关联。本研究旨在探讨α1(XI) 胶原基因（COL11A1）中的基因组多态性是否与大骨节病（KBD）的风险和严重程度相关。使用 Sequenom MassARRAY 系统，对 274 例 KBD 病例和 249 例健康对照中的 22 个 COL11A1 单核苷酸多态性（SNP）进行了基因分型。通过免疫组织化学分析了 22 例 KBD 患者和 21 例对照的膝关节关节软骨中 XI 型胶原（COL11A）的表达。我们的结果表明，COL11A1 中 rs2229783 多态性的基因型频率分布在 KBD 组和对照组之间存在显著差异（P = 0.0003）。此外，KBD 组软骨中 COL11A 的表达水平明显低于对照组（t = 2.637，P = 0.02）。然而，rs2229783 与 KBD 的严重程度之间没有关联，这表明 COL11A1 与 KBD 的易感性有关，但与 KBD 的严重程度无关。
