|本期目录/Table of Contents|

[1]卢一苇,谭龙,张锦香,等.胺碘酮诱发甲状腺功能异常敏感性的遗传特征研究[J].天津医科大学学报,2020,26(02):122-126.
 LU Yi-wei,TAN Long,ZHANG Jin-xiang,et al.Genetic characteristics of amiodarone-induced thyroid dysfunction sensitivity[J].Journal of Tianjin Medical University,2020,26(02):122-126.
点击复制

胺碘酮诱发甲状腺功能异常敏感性的遗传特征研究(PDF)
分享到:

《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
26卷
期数:
2020年02期
页码:
122-126
栏目:
临床医学
出版日期:
2020-04-30

文章信息/Info

Title:
Genetic characteristics of amiodarone-induced thyroid dysfunction sensitivity
文章编号:
1006-8147(2020)02-0127-06
作者:
卢一苇1谭龙1张锦香2常文露2赵萍2张万起1
(1.天津医科大学公共卫生学院营养与食品卫生学系,天津 300070;2.天津市胸科医院营养科,天津 300051)
Author(s):
LU Yi-wei1 TAN Long1 ZHANG Jin-xiang2 CHANG Wen-lu2 ZHAO Ping2 ZHANG Wan-qi1
(1.Department of Nutrition and Food Hygiene, School of Public Health, Tianjin Medical University, Tianjin 300070, China;2. Department of Nutrition, Tianjin Chest Hospital, Tianjin 300051, China)
关键词:
胺碘酮高碘甲状腺功能异常基因多态性
Keywords:
amiodarone high iodine abnormal thyroid function gene polymorphism
分类号:
R394
DOI:
-
文献标志码:
A
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PDE8B-rs6885099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。
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 SLC5A5, PTPN22, TG, TTF1, PDE8B, 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 SLC5A5-rs11672428 (P=0.043),the allele A of PDE8B-rs4704397(P=0.027) and the allele C of PDE8B-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 SLC5A5-rs11672428, the allele G of PDE8B-rs4704397 and the allele T of PDE8B -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.

参考文献/References:

[1] 潘春梅,李伟兰,劳国权.口服胺碘酮致甲状腺功能异常的临床观察[J].现代医院,2017,17(1):106
[2] Lisette A L, Gianluca U, Graziano C, et al. Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function[J]. Am J Hum Genet, 2008, 82(6):1270
[3] Yang S, Tao J, Zhang J, et al. Genetic association study of phosphodiesterase 8B gene with subclinical hypothyroidism in pregnant women[J]. Endocr Res, 2015, 40(4):199
[4] Bari A, Bri L, Graan S, et al. Association of established hypothyroidism-associated genetic variants with Hashimoto’s thyroiditis[J]. J Endocrinol Invest, 2017, 40(10): 1061
[5] Soto-Pedre E, Siddiqui M K, Doney A S, et al. Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a genetics of diabetes audit and research tayside study[J]. Pharmacogenet Genom, 2017, 27(10): 356
[6] Jyt N E, Kiefer A K, David A H, et al. Novel associations for hypothyroidism include known autoimmune risk loci[J]. PLoS One, 2012, 23(7): 785
[7] 王文强,张琪,张万起,等.候选基因单核苷酸多态性与天津汉族人群甲状腺功能减退症相关性研究[J].天津医科大学学报,2016, 22(2): 111
[8] 王文强.甲状腺功能异常与单核苷酸多态性关联研究[D].天津:天津医科大学, 2016
[9] 张琪.甲状腺激素合成相关基因多态性与甲状腺功能减退症的相关性研究[D].天津:天津医科大学, 2014
[10] Sun T, Gao Y, Tan W, et al. A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers[J]. Nat Genet, 2007, 39(5): 605
[11] Frost M, Petersen I, Hegedüs L, et al. Regulation of the pituitary- thyroid axis in adulthood is not related to birth weight: evidence from extremely birth weight discordant monozygotic Danish twin pairs[J]. Thyroid, 2013, 23(7): 78
[12] Ren Y, Juan L A, Celia M P, et al. FOXE1 polymorphism interacts with dietary iodine intake in differentiated thyroid cancer risk in the cuban population[J]. Thyroid, 2016, 12(26): 1752
[13] 张玲玲.单核苷酸多态性位点与乳头状甲状腺癌易感性的关联性研究[D].山东:济南大学, 2017
[14] Joshua C. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome-and phenome-wide studies[J]. Clin Genet, 2011,63(6): 529
[15] Spitzweg C, Morris J C. Genetics and phenomics of hypothyroidism and goiter dueto NIS mutations[J]. Mol Cell Endocrinol, 2010, 322(1): 56
[16] Yui W, Reham S E , Mohamed A, et al. A novel missense mutation in SLC5A5 gene in a sudanese family with congenital hypothyroidism[J]. Thyroid, 2018, 28(8):1068
[17] Ferrandino G, Kaspari R, Reyna N A, et al. An extremely high dietary iodide supply forestalls severe hypothyroidism in Na+/I-symporter (NIS) knockout mice[J]. Sci Rep, 2017, 7(1): 5329

相似文献/References:

[1]杜春蕾,郭 牧,张云强,等.尼非卡兰和胺碘酮治疗急性心肌梗死新发房颤有效性和安全性对比研究[J].天津医科大学学报,2019,25(05):471.
 DU Chun-lei,GUO Mu,ZHANG Yun-qiang,et al.Comparison of nifekalant and amiodarone in the treatment of new-onset atrial fibrillation in acute myocardial infarction patients[J].Journal of Tianjin Medical University,2019,25(02):471.

备注/Memo

备注/Memo:
基金项目 国家自然科学基金项目(71774115,81703218),天津市教委社科重大项目(2017JWZD35)
作者简介 卢一苇(1987-),女,硕士在读,研究方向:营养与食品卫生学;
通信作者:张万起,E-mail:wqzhang@tmu.edu.cn。
更新日期/Last Update: 2020-06-02