■FOXP3是调节Treg的发育和功能的转录因子,在预防自身免疫性疾病中起着至关重要的作用。FOXP3的变异会损害Treg细胞的功能,从而破坏它们的抑制能力并导致自身免疫性疾病。本文研究了FOXP3基因(-3279C/A,-924A/G和-6054del/ATT)与汉族人群的系统性红斑狼疮(SLE)易感性有关。
■研究队列包括122例SLE患者和268例健康对照。通过聚合酶链反应序列特异性引物(PCR-SSP)进行基因分型。此外,我们研究了SLE患者中与FOXP3多态性相关的潜在临床表现.
■结果显示-3279(C>A)与纯合子SLE风险显著相关(OR=3.24,95%CI=1.23-8.52,p=.013,AAvs.CC),显性(OR=1.68,95%CI=1.07-2.65,p=0.025,AC+AA与CC),隐性(OR=2.90,95%CI=1.12-7.55,p=0.023,AA与AC+CC)和等位基因(OR=1.72,95%CI=1.18-2.53,p=0.005,A与C)模型。此外,-924(A>G)与杂合子的SLE风险呈正相关(OR=1.66,95%CI=1.04-2.66,p=.033,AGvs.AA)和显性(OR=1.59,95%CI=1.01-2.49,p=0.042,AG+GG与AA)型号,而-6054(del>ATT)与SLE无关。此外,免疫学指标分析表明,补体C4降低在携带次要等位基因(A)-3279(C>A)的SLE患者中发生的频率高于未携带(p=.005)。
■我们证明了-3279(C>A)和-924(A>G)与SLE和免疫学指标的风险增加有关,提示FOXP3变异可能与SLE的发生发展有关。
UNASSIGNED: FOXP3 is a transcription factor that regulates the development and function of Treg, playing an essential role in preventing autoimmune diseases. Variation in FOXP3 can impair the function of Treg cells, thus destroying their inhibitory capacity and leading to autoimmune diseases. This paper investigated whether the three SNPs in the FOXP3 gene (-3279 C/A, -924 A/G and -6054 del/ATT) are associated with systemic lupus erythematosus (SLE) susceptibility in the Han Chinese population.
UNASSIGNED: The study cohort comprised 122 SLE patients and 268 healthy controls. Genotyping was performed by polymerase chain reaction sequence-specific primer (PCR-SSP). Furthermore, we examined the potential clinical manifestations associated with FOXP3 polymorphisms in SLE patients.
UNASSIGNED: The results showed that the -3279 (C > A) was significantly associated with the SLE risk in a homozygote (OR = 3.24, 95% CI = 1.23-8.52, p = .013, AA vs. CC), dominant (OR = 1.68, 95% CI = 1.07-2.65, p = .025, AC + AA vs. CC), recessive (OR = 2.90, 95% CI = 1.12-7.55, p = .023, AA vs. AC + CC) and allelic (OR = 1.72, 95% CI = 1.18-2.53, p = .005, A vs. C) models. In addition, -924 (A > G) was positively associated with SLE risk in the heterozygote (OR = 1.66, 95% CI = 1.04-2.66, p = .033, AG vs. AA) and dominant (OR = 1.59, 95% CI = 1.01-2.49, p = .042, AG + GG vs. AA) models, whereas -6054 (del > ATT) was not associated with SLE. Moreover, the immunological index analysis suggested that decreased complement C4 occurred more frequently in SLE patients carrying the minor allele (A) -3279 (C > A) than those not (p = .005).
UNASSIGNED: We demonstrated that -3279 (C > A) and -924 (A > G) were associated with an increased risk of SLE and the immunological index, indicating that the FOXP3 variation is potentially related to the occurrence and development of SLE.