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性别偏向性的CD3ζ 3'-UTR单核苷酸多态性增加再生障碍性贫血的发病风险。

Sex-Biased CD3ζ 3'-UTR SNP Increased Incidence Risk in Aplastic Anemia.

作者信息

Guo Lixing, Zhang Yuping, Liu Xiaoen, Xiao Yankai, Luo Weifeng, Fang Su, Li Yan, Lai Jing, Li Yangqiu, Li Bo

机构信息

Department of Hematology and Oncology, The Fifth Affiliated Hospital of Jinan University, Heyuan, People's Republic of China.

Department of Hematology, Guangzhou First People's Hospital, The Second Affiliated Hospital of South China University of Technology, Guangzhou, People's Republic of China.

出版信息

Int J Gen Med. 2024 Dec 19;17:6343-6353. doi: 10.2147/IJGM.S489870. eCollection 2024.

DOI:10.2147/IJGM.S489870
PMID:39720574
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11668313/
Abstract

PURPOSE

Aplastic anemia (AA) is a bone marrow failure syndrome with an unclear pathogenesis. Abnormal T cell immunity is one of the mechanisms involved in AA, and CD3ζ is an important signaling molecule for T cell activation. Single-nucleotide polymorphisms (SNPs) in CD3ζ 3'-untranslated region (3'-UTR) were associated with some immune-related disease occurrence and affect CD3ζ protein level. In this study, our aim was to analyze whether CD3ζ 3'-UTR SNPs were associated with AA susceptibility and had influence on CD3ζ protein level and provide new research data for exploring the pathogenesis of aplastic anemia.

PATIENTS AND METHODS

We screened the genotypes of SNPs in 101 healthy individuals and 91 AA patients by PCR-RFLP and sequencing. In addition, the effect of specific CD3ζ 3'-UTR SNPs was analyzed by flow cytometry and dual luciferase assay.

RESULTS

Four SNPs of CD3ζ 3'-UTR, 1184 C >G (rs3738212), 1292 delG (rs3831958), 1403 G >C (rs1052230) and 1410 A >T (rs1052231) were identified from Chinese healthy individuals and AA patients in which rs3738212 was not previously reported. Increased risk of AA was observed in female AA who with heterozygous genotype of linkage disequilibrium SNP (rs3831958, rs1052230 and rs1052231). Different genotypes of rs3738212 have sex-biases feature in AA, higher 1184 CC frequency in male AA and higher 1184 CG frequency in female AA. Furthermore, rs3738212 could upregulate CD3ζ protein level.

CONCLUSION

This study first identified sex-specific CD3ζ 3'-UTR SNPs that were associated with risk of AA. Our data also demonstrated that rs3738212 could upregulate CD3ζ protein level.

摘要

目的

再生障碍性贫血（AA）是一种发病机制不明的骨髓衰竭综合征。异常的T细胞免疫是AA发病机制之一，而CD3ζ是T细胞活化的重要信号分子。CD3ζ 3'-非翻译区（3'-UTR）的单核苷酸多态性（SNP）与一些免疫相关疾病的发生有关，并影响CD3ζ蛋白水平。本研究旨在分析CD3ζ 3'-UTR SNP是否与AA易感性相关，是否影响CD3ζ蛋白水平，为探索再生障碍性贫血的发病机制提供新的研究数据。

患者与方法

我们通过PCR-RFLP和测序技术对101名健康个体和91例AA患者的SNP基因型进行了筛查。此外，通过流式细胞术和双荧光素酶报告基因检测分析了特定CD3ζ 3'-UTR SNP的作用。

结果

在中国健康个体和AA患者中鉴定出CD3ζ 3'-UTR的4个SNP，即1184 C>G（rs3738212）、1292 delG（rs3831958）、1403 G>C（rs1052230）和1410 A>T（rs1052231），其中rs37

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/774b1cc6b2e3/IJGM-17-6343-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/f203c8f01cc1/IJGM-17-6343-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/116d0082b2d5/IJGM-17-6343-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/0cd3d2013f0f/IJGM-17-6343-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/b0b90a8b1a8a/IJGM-17-6343-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/774b1cc6b2e3/IJGM-17-6343-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/f203c8f01cc1/IJGM-17-6343-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/116d0082b2d5/IJGM-17-6343-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/0cd3d2013f0f/IJGM-17-6343-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/b0b90a8b1a8a/IJGM-17-6343-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e585/11668313/774b1cc6b2e3/IJGM-17-6343-g0005.jpg

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