Association of genetic variations in <i>FoxP3</i> gene with Graves' disease in a Southwest Chinese Han population

作者全名："Tan, Guiqin; Zheng, Guangbing; Li, Jiang; Zhu, Yingping; Liang, Zhongzhi; Li, Hua; Yu, Hongsong; Wang, Xin"

作者地址："[Tan, Guiqin; Zheng, Guangbing; Li, Jiang; Zhu, Yingping; Liang, Zhongzhi; Yu, Hongsong; Wang, Xin] Zunyi Med Univ, Sch Basic Med Sci, Special Key Lab Ocular Dis Guizhou Prov, Zunyi, Peoples R China; [Tan, Guiqin] Zunyi Med Univ, Affiliated Hosp 2, Zunyi, Peoples R China; [Li, Hua] Chongqing Med Univ, Yongchuan Hosp, Chongqing, Peoples R China"

通信作者："Yu, HS; Wang, X (通讯作者)，Zunyi Med Univ, Sch Basic Med Sci, Special Key Lab Ocular Dis Guizhou Prov, Zunyi, Peoples R China."

来源：IMMUNITY INFLAMMATION AND DISEASE

ESI学科分类：IMMUNOLOGY

WOS号：WOS:001086475700001

JCR分区：Q3

影响因子：3.1

年份：2023

卷号：11

期号：10

开始页：　

结束页：　

文献类型：Article

关键词：association; Forkhead box P3; Graves' disease; single-nucleotide polymorphism

摘要："Background Graves' disease (GD) is a T cell-mediated organ-specific autoimmune disease. Forkhead box P3 (FoxP3) is an excellent marker for the induction and development of regulatory T cells (Tregs). Recent studies showed that single-nucleotide polymorphisms (SNPs) in the FoxP3 gene were associated with the increased susceptibility to several autoimmune diseases. In the present study, we investigated the association of FoxP3 gene polymorphisms with GD in a Southwest Chinese Han population.Methods A two-stage case-control study was performed in 890 healthy controls (male, 282; female, 608) and 503 patients with GD (male, 138; female, 365). Four SNPs (rs3761548, rs3761549, rs3761547, and rs2280883) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism assay. The chi(2) test was used to compare the genotype distributions and allele frequencies between GD patients and healthy controls.Results In the first stage, the significantly increased frequencies of the A allele (p = .031, odds ratio [OR] = 1.635) and AA genotype (p = .023, OR = 3.257), together with a significantly decreased frequency of the C allele (p = .031, OR = 0.611) of FoxP3/rs3761548 were found in female patients with GD. None of the other FoxP3 SNPs was associated with GD susceptibility. Subsequent validation and combination of data confirmed the association between FoxP3/rs3761548 and the female patients with GD (A allele: p < .001, OR = 1.672; AA genotype: p = .005, OR = 2.488; CC genotype: p = .001, OR = 0.622; C allele: p < .001, OR = 0.615, respectively).Conclusion Our findings suggest that FoxP3/rs3761548 is significantly associated with female GD patients in a Southwest Chinese Han population."

基金机构："This work was supported by National Key Ramp;D Program of China (grant number: 2018YFC1004303), National Natural Science Foundation Project of China (grant number: 82160154), the Hundred-level Innovative Talent Foundation of Guizhou Province (grant number [2018YFC1004303]; National Key Ramp;D Program of China [82160154]; National Natural Science Foundation Project of China [QKH-PTRC-GCC[2023]041]; Hundred-level Innovative Talent Foundation of Guizhou Province [QKH-JC-2019-1464]; Key Project of Guizhou Provincial Science and Technology Department [QJH-KY-2017-077]; Excellent Talent Support Program of Guizhou Provincial Education Department [QKH-PTRC-2018-5772-042]; Science and Technology Foundation of Guizhou Province [gzwkj2023-456]; Science and Technology Foundation of Guizhou Provincial Health Commission [ZSKH-HZ-2020-35]; Science and Technology Project of Zunyi [18-ZY-001]; Program for Excellent Young Talents of Zunyi Medical University"

基金资助正文："This work was supported by National Key R & D Program of China (grant number: 2018YFC1004303), National Natural Science Foundation Project of China (grant number: 82160154), the Hundred-level Innovative Talent Foundation of Guizhou Province (grant number: QKH-PTRC-GCC[2023]041), the Key Project of Guizhou Provincial Science and Technology Department (grant number: QKH-JC-2019-1464), the Excellent Talent Support Program of Guizhou Provincial Education Department (grant number: QJH-KY-2017-077), the Science and Technology Foundation of Guizhou Province (grant number: QKH-PTRC-2018-5772-042), the Science and Technology Foundation of Guizhou Provincial Health Commission (grant number: gzwkj2022-268), the Science and Technology Project of Zunyi (grant number: ZSKH-HZ-2020-35), the Science and Technology Foundation of Guizhou Provincial Health Commission (grant number: gzwkj2023-456) and the Program for Excellent Young Talents of Zunyi Medical University (grant number: 18-ZY-001)."