Graduate School of Shanghai University of Traditional Chinese Medicine, Shanghai 201203, China.
Department of Endocrinology & Rheumatology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai 201318, China.
Biomed Res Int. 2022 Jul 12;2022:2603519. doi: 10.1155/2022/2603519. eCollection 2022.
Autoimmune thyroid diseases (AITDs), representative autoimmune diseases, mainly consist of Graves' disease (GD) and Hashimoto's thyroiditis (HT). In this passage, we investigated the association between vascular endothelial growth factor C (VEGFC) gene polymorphisms and AITDs.
A total of 1084 patients with AITDs and 794 healthy controls were tested for VEGFC gene genotypes in four single nucleotide polymorphisms (SNPs) by high-throughput sequencing, and the correlation between VEGFC gene polymorphisms and AITDs was statistically analyzed.
The genotype distribution of rs3775194 was statistically associated with AITDs compared with the control group. Rs3775194 was associated with AITDs under the overdominant model, both before and after adjusting for confounding factors, while the other three SNPs were not associated with GD and HT. There was a prominent discrepancy between male healthy controls and male AITD patients under overdominant model in rs3775194 and the recessive model in rs11947611. The genotype distribution of rs3775194 was statistically related to male HT.
These results reveal the correlation between VEGFC mutation and AITD susceptibility.
自身免疫性甲状腺疾病（AITD），代表性的自身免疫性疾病，主要包括格雷夫斯病（GD）和桥本甲状腺炎（HT）。在这篇文章中，我们研究了血管内皮生长因子 C（VEGFC）基因突变与 AITD 的相关性。
通过高通量测序对 1084 例 AITD 患者和 794 例健康对照者的 4 个单核苷酸多态性（SNP）进行 VEGFC 基因基因型检测，并对 VEGFC 基因突变与 AITD 的相关性进行统计学分析。
与对照组相比，rs3775194 的基因型分布与 AITD 具有统计学相关性。rs3775194 在显性模型下与 AITD 相关，且在调整混杂因素前后均如此，而其他三个 SNP 与 GD 和 HT 均不相关。rs3775194 在显性模型和 rs11947611 在隐性模型下，男性健康对照组与男性 AITD 患者之间的基因型分布存在显著差异。rs3775194 的基因型分布与男性 HT 具有统计学相关性。
这些结果揭示了 VEGFC 突变与 AITD 易感性之间的相关性。
