c.+677 C>T (rs1801133) 和 c.+1298 A>C (rs1801131) MTHFR 基因变异与系统性红斑狼疮患者心脏代谢和疾病风险的关系:一项横断面研究。

IF 1.9 4区 医学 Q3 RHEUMATOLOGY
Lupus Pub Date : 2024-08-01 Epub Date: 2024-05-23 DOI:10.1177/09612033241257158
Karen Pesqueda-Cendejas, Isela Parra-Rojas, Bertha Campos-López, Paulina E Mora-García, Adolfo I Ruiz-Ballesteros, Melissa Rivera-Escoto, Sergio Cerpa-Cruz, Ulises De la Cruz-Mosso
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引用次数: 0

摘要

系统性红斑狼疮(SLE)患者的心脏代谢风险很高,与临床表现和死亡率恶化有关。叶酸是一种参与重要免疫细胞功能的必需微量营养素,可通过参与叶酸代谢的亚甲基四氢叶酸还原酶(MTHFR)对系统性红斑狼疮患者的心脏代谢和疾病风险产生积极影响。本研究旨在确定 c.+677 C>T (rs1801133) 和 c.+1298 A>C (rs1801131) MTHFR 基因变异与系统性红斑狼疮患者的心脏代谢风险和临床疾病变量之间的关联。一项病例对照研究针对 394 名无血缘关系的墨西哥混血女性进行:根据 1997 年 SLE-ACR 标准,其中 199 人患有系统性红斑狼疮,196 人为对照组(CS)。通过免疫测定法对叶酸和同型半胱氨酸水平进行了评估。通过等位基因辨别法对 MTHFR 基因变异进行了基因分型。各组间叶酸(p = .15)和同型半胱氨酸血清水平(p = .59)无明显差异。根据卡斯泰利指数(OR = 0.42; p = .03),CC c.+677 MTHFR 基因型与系统性红斑狼疮患者的低心血管疾病(CVD)风险有关。c.+677 C>T 加 c.+1298 MTHFR 的 TC(OR = 1.3;p = .03)和 TA(OR = 1.6;p < .01)单倍型与系统性红斑狼疮的风险有关,而 CC MTHFR 单倍型(OR = 0.5;p = .01)被认为是该疾病的非风险因素。总之,TC 和 TA MTHFR 单倍型与疾病风险有关;同时,CC c.+677 MTHFR 基因型可降低墨西哥裔系统性红斑狼疮患者的心脏代谢风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association of c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic and disease risk in systemic lupus erythematosus patients: A cross-sectional study.

Systemic lupus erythematosus (SLE) patients present a high prevalence of cardiometabolic risk, associated with worse clinical manifestations and mortality. Folate, an essential micronutrient that participates in vital immune cellular functions, could positively affect the cardiometabolic and disease risk in SLE, through the methylenetetrahydrofolate reductase (MTHFR) enzyme, which participates in the folate metabolism, where single nucleotide variants (SNVs) have been described as a potential genetic risk factor for SLE. The aim of this study was to determine the association of the c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) MTHFR genetic variants with cardiometabolic risk and clinical disease variables in SLE patients. A case-control study was conducted on 394 unrelated Mexican-mestizo women: 199 with SLE according to the 1997 SLE-ACR criteria and 196 control subjects (CS). Folic acid and homocysteine levels were evaluated by immunoassays. Genotyping of MTHFR genetic variants was carried out by allelic discrimination. No significant differences were found for folic acid (p = .15) and homocysteine serum levels (p = .59) between groups. According to the CC c.+677 MTHFR genotype, this was associated with low cardiovascular disease (CVD) risk by the Castelli index (OR = 0.42; p = .03) in SLE patients. The TC (OR = 1.3; p = .03) and the TA (OR = 1.6; p < .01) haplotypes from c.+677 C>T plus c.+1298 MTHFR were associated with SLE risk, while the CC MTHFR haplotype (OR = 0.5; p = .01) was found as a non-risk factor for the disease. In conclusion, the TC and the TA MTHFR haplotypes are associated with disease risk; meanwhile, the CC c.+677 MTHFR genotype confers lower cardiometabolic risk in Mexican-mestizo SLE patients.

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来源期刊
Lupus
Lupus 医学-风湿病学
CiteScore
4.20
自引率
11.50%
发文量
225
审稿时长
1 months
期刊介绍: The only fully peer reviewed international journal devoted exclusively to lupus (and related disease) research. Lupus includes the most promising new clinical and laboratory-based studies from leading specialists in all lupus-related disciplines. Invaluable reading, with extended coverage, lupus-related disciplines include: Rheumatology, Dermatology, Immunology, Obstetrics, Psychiatry and Cardiovascular Research…
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