【摘要】 目的:研究候选单核苷酸多态性(SNP)位点与服用胺碘酮(AMD)导致高碘暴露的人群甲状腺功能异常易感性的关系,寻找与甲状腺功能对碘暴露敏感性相关的SNP位点。方法:采用病例对照研究方法,收集服用AMD患者114例,58例出现甲状腺功能异常为病例组,56例为对照组,收集静脉血5 mL,采用MassARRAY技术对SLC5A5、PTPN22、TG、TTF1、PDE8B、DIO1、PAX8、VAV3、CCBE1、DFNB31等基因的15个候选SNP位点进行基因分型,筛查和分析差异SNP位点信息,探索与疾病相关的潜在基因。结果:结果显示,SLC5A5-rs11672428等位基因C(P=0.043),PDE8B-rs4704397等位基因A(P=0.027)和PDE8Brs6885099等位基因C(P=0.031)可以降低患甲状腺功能异常的风险。CCBE1-rs1791303基因型AA(P=0.010),CCBE1-rs4940904基因型TT(P=0.013),VAV3-rs4915077基因型TT(P=0.048)可能增加罹患甲状腺功能异常易感性。结论:SLC5A5-rs11672428的等位基因T、PDE8B-rs4704397的等位基因G和PDE8B-rs6885099的等位基因T,CCBE1-rs1791303基因型AA、CCBE1-rs4940904基因型TT和VAV3-rs4915077基因型TT均会增加高碘暴露的易感性。更多还原

【Abstract】 Objective: To verify the relationship between the candidate single nucleotide polymorphism(SNP) and thyroid dysfunction susceptibility in people with high iodine exposure induced by amiodarone(AMD), and search SNP loci which relating to sensitivity of thyroid function to iodine exposure. Methods: 114 patients who used AMD was collected by case-control study, comparing 58 patients with thyroid dysfunction as the case group and 56 patients with normal thyroid function as the control group. Five mL Venous blood were collected, and genetic typing of 15 candidated SNP loci form SLC5 A5, PTPN22, TG, TTF1, PDE8 B, DIO1, PAX8, VAV3, CCBE1 and DFNB31 genes were conducted with MassARRAY technology. The information of different SNP loci were screened and analyzed to explore the potential genes related to diseases. Results: The allele C of SLC5 A5-rs11672428(P=0.043),the allele A of PDE8 B-rs4704397(P=0.027) and the allele C of PDE8 B-rs6885099(P=0.031) might reduce the risk of thyroid dysfunction. The genotype AA of CCBE1-rs1791303(P=0.010), the genotype TT of CCBE1-rs4940904(P=0.013) and the genotype TT of VAV3-rs4915077(P=0.048) might increase the susceptibility to thyroid dysfunction. Conclusion: The allele T of SLC5 A5-rs11672428, the allele G of PDE8 B-rs4704397 and the allele T of PDE8 B-rs6885099, the AA genotype of CCBE1-rs1791303, the TT genotype of CCBE1-rs4940904 and the TT genotype of VAV3-rs4915077 may increase the susceptibility to high iodine exposure.更多还原