TPO rs2048722、PTCSC2 rs925489 和 SEMA4G rs4919510 中的变异与甲状腺癌易感性风险相关。

Variants in TPO rs2048722, PTCSC2 rs925489 and SEMA4G rs4919510 affect thyroid carcinoma susceptibility risk.

机构信息

Department of Otolaryngology Head and Neck Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277, Yanta West Road, Xi'an, 710000, Shaanxi, China.

Department of Otolaryngology, Yaozhou Zone People's Hospital, North side of the middle of Huayuan Road, Yaozhou Zone, Tongchuan, 727100, Shaanxi, China.

出版信息

BMC Med Genomics. 2023 Feb 4;16(1):19. doi: 10.1186/s12920-023-01447-5.

DOI:10.1186/s12920-023-01447-5

PMID:36737753

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9898984/

Abstract

BACKGROUND

Thyroid carcinoma (THCA) is a malignant endocrine tumor all around the world, which is influenced by genetic and environmental factors.

OBJECTIVE

To explore the association between TPO rs2048722, PTCSC2 rs925489, SEMA4G rs4919510 polymorphisms and THCA susceptibility in Chinese population.

METHODS

We recruited 365 THCA patients and 498 normal controls for the study. Logistic regression analysis was used to evaluate the association between TPO rs2048722, PTCSC2 rs925489, SEMA4G rs4919510 polymorphisms and THCA susceptibility. MDR was used to assess the genetic interactions among the three SNPs.

RESULTS

Overall analysis demonstrated that rs925489 of PTCSC2 was evidently associated with increased risk of THCA in multiple genetic models (OR = 1.59, 95%CI = 1.12-2.24, p = 0.009). The results of stratified analysis illustrated that rs2048722 of TPO can significantly increase the THCA susceptibility of participants less than or equal to 44 years old and smokers. Similarly, rs925489 of PTCSC2 obviously improved the risk of THCA among participants older than 44 years, males, smokers and drinkers. However, rs4919510 of SEMA4G has a protective effect on the development of THCA among participants with less than or equal to 44 years old and non-drinkers. Interestingly, there was a strong genetic interaction among the three SNPs in the occurrence of THCA risk.

CONCLUSION

TPO rs2048722, PTCSC2 rs925489 and SEMA4G rs4919510 polymorphisms were evidently associated with the risk of THCA in the Chinese population, which was affected by age, gender, smoking and drinking consumption.

摘要

背景

甲状腺癌（THCA）是一种全球性的恶性内分泌肿瘤，受遗传和环境因素的影响。

目的

探讨 TPO rs2048722、PTCSC2 rs925489、SEMA4G rs4919510 多态性与中国人群 THCA 易感性的关系。

方法

本研究纳入了 365 例 THCA 患者和 498 例正常对照。采用 logistic 回归分析评估 TPO rs2048722、PTCSC2 rs925489、SEMA4G rs4919510 多态性与 THCA 易感性的关系。采用多因子降维分析（MDR）评估三个 SNP 之间的遗传相互作用。

结果

总体分析表明，PTCSC2 的 rs925489 与多种遗传模型下 THCA 的发病风险显著相关（OR=1.59，95%CI=1.12-2.24，p=0.009）。分层分析结果表明，TPO 的 rs2048722 可显著增加≤44 岁和吸烟者的 THCA 易感性。同样，PTCSC2 的 rs925489 可明显增加>44 岁、男性、吸烟者和饮酒者的 THCA 发病风险。然而，SEMA4G 的 rs4919510 对≤44 岁和非饮酒者的 THCA 发病风险具有保护作用。有趣的是，这三个 SNP 在 THCA 发病风险的发生中存在强烈的遗传相互作用。