Association of Vitamin D receptor gene polymorphism with susceptibility and prognosis of Systemic Lupus Erythematosus in Chinese patients.

Autor: Zhang S; Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China., Liu S; Department of Rheumatology and Immunology, Nanjing Drum Tower Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Nanjing, Jiangsu, China., Zhu Y; Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China., Geng L; Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China; Department of Rheumatology and Immunology, Department of Traditional Chinese Medicine, Nanjing Drum Tower Hospital Clinical College of Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, Nanjing, China. Electronic address: genglinyu1987@163.com., Sun L; Department of Rheumatology and Immunology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China. Electronic address: lingyunsun@nju.edu.cn.
Jazyk: angličtina
Zdroj: Gene [Gene] 2025 Jan 15; Vol. 933, pp. 149004. Date of Electronic Publication: 2024 Oct 16.
DOI: 10.1016/j.gene.2024.149004
Abstrakt: Introduction: The etiology of systemic lupus erythematosus (SLE) is complex, involving both environmental and genetic factors. Previous research has indicated a potential link between autoimmune diseases, such as SLE, and variations in the vitamin D receptor gene (VDR). This study intended to explore the relationship between VDR SNPs, susceptibility to SLE, clinical parameters, and prognosis in the Chinese Han SLE population.
Method: Totally, 461 healthy individuals and 503 patients were recuited SLE diagnoses were chosen. Data on clinical symptoms, scores from the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and results from clinical examinations were collected. The study analyzed four variations in the VDR gene (FokI, BsmI, ApaI, TaqI) using MassARRAY® Iplex GOLD SNP genotyping.
Results: The dominant model showed significant correlations between susceptibility to SLE and the FokI (P < 0.001) and ApaI (P < 0.001) SNPs. Additionally, mucosal ulcer was linked to FokI, while hematologic disorder, rash, photosensitivity, and anti-dsDNA positivity were associated with ApaI. Subsequent studies indicated that the FokI SNP was connected to a poorer prognosis in SLE patients.
Conclusions: This research indicates that VDR SNPs could potentially contribute to the susceptibility of SLE, as well as impacting the clinical presentation and outlook for Chinese individuals with SLE. (Protocol No. 2016-027, registered retrospectively).
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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