单核苷酸多态性与甲状腺功能减退症的关联研究

谭龙; 王文强; 刘圣美; 陈雯; 唐彩云; 张琪; 田晓晓; 桑仲娜; 沈钧; 张万起

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Association between Single Nucleotide Polymorphism and Hypothyroidism

首发时间：2015-12-16

TAN Long ¹
TAN Long（1983-），Male，Nutrition and Food Hygiene
WANG Wenqiang ² LIU Shengmei ² CHEN Wen ² TANG Caiyun ² ZHANG Qi ² TIAN Xiaoxiao ² SANG Zhongna ² SHEN Jun ² ZHANG Wanqi ²
ZHANG Wanqi（1963-），Male，Professor，Nutrition and Food Hygiene

1、 School of Public Health, Tianjin Medical University, 300070
2、School of Public Health, Tianjin Medical University, 300070

Abstract：In this paper, we conducted a case control-based genetic screening of 14 single nucleotide polymorphisms (SNPs) loci in five genes including thyroglobulin (TG),thyroid peroxidase (TPO), thyroid stimulating hormone receptor (TSHR), dual oxidase 2 (DUOX2) and solute carrier family member 5 (SLC5A5), with the aim to explore the relationship between the candidate SNPs and the susceptibility to hypothyroidism(HT) in Chinese Han population. A total of 347 hypothyroid patients and 337 healthy individuals were enrolled and the SNP loci were sequenced using Sequenom platform and MassArray technology.Allele association analysis showed rs2741202 and rs3739266 in TG were associated with HT (P = 0.048 and 0.038, respectively). Genotype association analysis showed rs1126799 in TPO and rs2741202 in TG had weak association with HT (P = 0.067 and 0.098, respectively). Logistic regression analysis showed the females were more susceptible to HT than the males (OR = 0.247), and individuals carrying the mutation genotype of TG-rs3739266 (OR = 1.372) were more susceptible to HT than those with the wild genotype. SLC5A5-rs11672428 was associated with FT4 after the adjustment of age and gender (P = 0.003), and TG-rs3739266 was associated with TSH in the females (P = 0.028). These SNP loci may be valuable biomarkers for the screening of the susceptible population.

keywords： hypothyroidism, susceptibility, single nucleotide polymorphisms, association analysis.

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单核苷酸多态性与甲状腺功能减退症的关联研究

谭龙 ¹
TAN Long（1983-），Male，Nutrition and Food Hygiene
王文强 ¹ 刘圣美 ¹ 陈雯 ¹ 唐彩云 ¹ 张琪 ¹ 田晓晓 ¹ 桑仲娜 ¹ 沈钧 ¹ 张万起 ¹
ZHANG Wanqi（1963-），Male，Professor，Nutrition and Food Hygiene

1、公共卫生学院，天津医科大学，300070

摘要：目的：探讨与甲状腺激素合成有关的5个关键基因TG、TPO、DUOX2、NIS和TSHR的候选SNP位点多态性与中国汉族甲状腺功能减退症易感性的关系。方法：在天津地区，收集347例HT患者和337例正常对照个体的临床资料和血凝块，应用病例对照研究比较甲减组与对照组某个遗传位点的等位基因和基因型频率的差异，揭示SNPs多态性与HT易感性的关联性。结果:等位基因关联分析显示TG-rs2741202与TG-rs3739266位点与甲减有具有关联性（P=0.038、0.048），基因型关联分析结果显示TG-rs2741202与TPO-rs1126799 与甲减之间存在一定的关联趋势（P=0.067、0.098）。Logistic 回归分析显示中国女性人群比男性人群更易感甲减（0R=0.247）。性别调整之前，仅TG-rs3739266与血清TSH水平存在关联性(P=0.028)。年龄和性别均调整以后，SLC5A5-rs11672428 与血清FT4水平存在显著关联性（P=0.003）。结论：本研究发现位点TG-rs2741202、TG-rs3739266、SLC5A5-rs11672428 及TPO-rs1126799与甲状腺功能减退症之间存在一定的关联性，为以后甲减易感人群的筛查提供有价值的生物标志物。

关键词：甲状腺功能减退症易感性单核苷酸多态性关联研究

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TAN Long,WANG Wenqiang,LIU Shengmei,et al. Association between Single Nucleotide Polymorphism and Hypothyroidism[EB/OL]. Beijing:Sciencepaper Online[2015-12-16]. https://www.paper.edu.cn/releasepaper/content/201512-863.

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论文编号	201512-863
论文题目	单核苷酸多态性与甲状腺功能减退症的关联研究
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