Gene Polymorphisms Increase the Risk of Systemic Lupus Erythematosus in a Han Chinese Population

Overview

Journal Ann Med

Publisher Informa Healthcare

Specialty General Medicine

Date 2024 Jun 7

PMID 38848045

Authors

Shushu Du

Lili Zhao

Jiaming Wu

Xiaofei Shi

Rongzeng Liu

Affiliations

Soon will be listed here.

Abstract

Background: FOXP3 is a transcription factor that regulates the development and function of Treg, playing an essential role in preventing autoimmune diseases. Variation in 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 gene (-3279 C/A, -924 A/G and -6054 del/ATT) are associated with systemic lupus erythematosus (SLE) susceptibility in the Han Chinese population.

Materials And Methods: 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 polymorphisms in SLE patients.

Results: 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, = .013, AA vs. CC), dominant (OR = 1.68, 95% CI = 1.07-2.65, = .025, AC + AA vs. CC), recessive (OR = 2.90, 95% CI = 1.12-7.55, = .023, AA vs. AC + CC) and allelic (OR = 1.72, 95% CI = 1.18-2.53, = .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, = .033, AG vs. AA) and dominant (OR = 1.59, 95% CI = 1.01-2.49, = .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 ( = .005).

Conclusions: 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 variation is potentially related to the occurrence and development of SLE.

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