UBASH3A基因多态性与自身免疫性甲状腺疾病之间缺乏关联:一项病例对照研究

TianTian Cai, Xuan Wang, Fatuma-Said Muhali, RongHua Song, XiaoHong Shi, WenJuan Jiang, Ling Xiao, DanFeng Li, JinAn Zhang
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引用次数: 6

摘要

目的:本研究旨在探讨中国汉族人群中UBASH3A基因变异与自身免疫性甲状腺疾病及临床特征的相关性。对象和方法:利用基质辅助激光脱附电离飞行时间质谱(MALDI-TOF-MS)平台,对667例AITD患者(417例GD和250例HT)和301例健康对照进行UBASH3A基因rs11203203、rs3788013两个单核苷酸多态性(snp)进行基因分型。结果:对照组与AITD组、GD组、HT组之间,两个snp的基因型及等位基因频率差异均无统计学意义。两种snp的等位基因频率在有眼病和没有眼病的GD之间没有显著差异。对照组与AITD、GD、HT组的单倍型分布无显著差异。结论:UBASH3A基因Rs11203203和rs3788013可能与中国汉族AITD患者无关。
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Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study.

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population.

Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform.

Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group.

Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.

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[Multiple endocrine neoplasia type 2]. [Thyroid hormone resistance syndrome]. A case of thyroid hormone resistance: a rare mutation. [Giant metastasis of thyroid papillar carcinoma]. Angiotensin-II induced insulin resistance.
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