Lupus最新文献

{"title":"Belimumab-induced periungual pyogenic granulomas: A case report.","authors":"Cecilia Beatrice Chighizola, Ilaria Suardi, Achille Marino, Maurizio Gattinara, Stefania Costi, Angelo Cattaneo, Maria Gerosa, Roberto Caporali","doi":"10.1177/09612033241260180","DOIUrl":"10.1177/09612033241260180","url":null,"abstract":"<p><p>Pyogenic granuloma (PG) is a benign vascular neoformation, presenting as a painful red nodule on the skin, mucosa or nail apparatus. It is usually related to local complications such as bleedings and superinfections. The etiology of PG remains still unclear, and several triggers can lead to its formation. In case of multiple lesions, systemic conditions and drugs remain the main causes. Antineoplastic treatments, retinoids, antiretrovirals, hormones and anticonvulsants are frequently implicated in PG formation. In literature, PG has been rarely described in the course of biological treatment due to rheumatological disease. The present case report describes the development of polydactolous PGs in a 21-year-old woman with juvenile systemic lupus erythematosus (jSLE) during treatment with belimumab, a monoclonal antibody directed against BlyS. The clinical presentation, in particular the timing and the multiplicity of the lesions, and the improvement after belimumab discontinuation allowed us to consider PG as drug-induced. This case highlights the importance of considering PG as a potential complication of rheumatologic treatments.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anifrolumab treatment improves patient-reported quality of life and decreases disease activity and corticosteroid use in patients with systemic lupus erythematosus: A qualitative study in Denmark.","authors":"Anne Troldborg, Lauren Remkus, Daniel Eek, Bent Deleuran","doi":"10.1177/09612033241261746","DOIUrl":"10.1177/09612033241261746","url":null,"abstract":"<p><p>Anifrolumab is a new therapeutic approach for individuals with systemic lupus erythematosus (SLE) directed at blocking the type 1 interferon pathway. Despite the expanding body of literature on Anifrolumab, an essential aspect remains absent: the subjective patient experience of treatment effects and implications on patients' health-related quality of life (HRQoL). The present study aimed to fill this void by elucidating the nuanced perspectives of SLE patients receiving Anifrolumab treatment by conducting qualitative in-depth interviews (IDIs). SLE patients at Aarhus University Hospital who had received at least three infusions of Anifrolumab were approached for inclusion in the study, which comprised two main elements: (1) qualitative IDIs and (2) collection of patient data from electronic medical records (EMRs). The IDIs were semi-structured and based on a discussion guide that included open-ended and close-ended questions. Verbatim transcripts were coded and analysed using qualitative software to understand concepts important to patients and to understand patients' own experiences before and after Anifrolumab therapy. A clinical chart review was conducted using EMR data at baseline, 3 months, and 6 months after Anifrolumab initiation. IDIs were completed with 14 patients, and EMR data was collected from 16 patients (treatment days range: 62-474). Of the 23 symptoms spontaneously reported by patients prior to Anifrolumab treatment, fatigue, joint pain, sun sensitivity, joint stiffness, skin rashes, and hair loss were the most common. Most symptoms improved, and none worsened during treatment. Patients reported significant impacts of disease on daily life before treatment: day-to-day activities, social life, emotional aspects, physical activity, concentration/memory, work/employment, and family/romantic relationships. Patients reported improvements in all aspects after treatment but were still impacted. From the EMR data, we observed a fall in disease activity after treatment initiation with a concomitant reduction in the use of corticosteroids. This study provides valuable insights into the subjective experiences of SLE patients treated with Anifrolumab, and the findings collectively contribute to a comprehensive understanding of the treatment's efficacy from the patients' perspective and its tangible effects on both subjective and objective parameters in SLE patients.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11348625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141432258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between TCA cycle plasma metabolites and fatigue in black females with systemic lupus erythematosus: An untargeted metabolomics pilot study.","authors":"Laura P Kimble, Arezou Khosroshahi, Glenna S Brewster, Sandra B Dunbar, Dylan Ryan, Nicole Carlson, Ron Eldridge, Madelyn Houser, Elizabeth Corwin","doi":"10.1177/09612033241260334","DOIUrl":"10.1177/09612033241260334","url":null,"abstract":"<p><strong>Objective: </strong>In this pilot study, we used untargeted metabolomics to identify biochemical mechanisms or biomarkers potentially underlying SLE-related fatigue.</p><p><strong>Methods: </strong>Metabolon conducted untargeted metabolomic plasma profiling using ultrahigh performance liquid chromatography/tandem mass spectrometry on plasma samples of 23 Black females with systemic lupus erythematosus (SLE) and 21 no SLE controls. Fatigue phenotypes of general fatigue, physical fatigue, mental fatigue, reduced activity, and reduced motivation were measured with the reliable and valid Multidimensional Fatigue Inventory (MFI).</p><p><strong>Results: </strong>A total of 290 metabolites were significantly different between the SLE and no SLE groups, encompassing metabolites related to glycolysis, TCA cycle activity, heme catabolism, branched chain amino acids, fatty acid metabolism, and steroids. Within the SLE group, controlling for age and co-morbidities, TCA cycle metabolites of alpha-ketoglutarate (AKG) and succinate were statistically significantly associated (<i>p</i> < .05) with physical and general fatigue.</p><p><strong>Conclusion: </strong>While pervasive perturbations in the entire TCA cycle have been implicated as a potential mechanism for fatigue, our results suggest individual metabolites of AKG and succinate may be potential biomarkers or targets of intervention for fatigue symptom management in SLE. Additionally, perturbations in heme metabolism in the SLE group provide additional insights into mechanisms that promote systemic inflammation.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11296915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mortality in patients with systemic lupus erythematosus: A meta-analysis of overall and cause-specific effects.","authors":"Young Ho Lee, Gwan Gyu Song","doi":"10.1177/09612033241257134","DOIUrl":"10.1177/09612033241257134","url":null,"abstract":"<p><strong>Objectives: </strong>Our objective was to assess the overall and cause-specific standardized mortality ratios (SMRs) among patients diagnosed with systemic lupus erythematosus (SLE).</p><p><strong>Methods: </strong>An exhaustive systematic review was undertaken, encompassing studies that scrutinized SMRs, both overall and for specific causes, in patients diagnosed with SLE compared to the general populace. The databases of PUBMED, EMBASE, and Cochrane were meticulously searched to collate relevant literature. Following this comprehensive search, a meta-analysis was executed to methodically assess all-cause, sex-specific, ethnicity-specific, and cause-specific SMRs in individuals with SLE.</p><p><strong>Results: </strong>The inclusion criteria were met by 29 studies encompassing 72,342 patients with SLE and documenting 7352 deaths. The meta-analysis disclosed a pronounced 2.87-fold elevation in the SMR for all-cause mortality in SLE patients relative to the general population (SMR, 2.866; 95% confidence interval [CI], 2.490-3.242; <i>p</i> < .001). Region-specific assessments showed variable all-cause SMRs, with Europe reporting 2.607 (95% CI, 1.939-3.275; <i>p</i> < .001), Asia revealing 3.043 (95% CI, 2.082-4.004; <i>p</i> < .001), and particularly high SMRs noted in North America and Oceania. Gender-focused analyses presented a pooled SMR of 3.261 (95% CI, 2.674-3.848; <i>p</i> < .001) for females, and 2.747 (95% CI, 2.190-3.304; <i>p</i> < .001) for males. Evaluations specific to cause of death illustrated notably elevated SMRs for renal disease (SMR, 4.486; 95% CI, 3.024-5.948; <i>p</i> < .001), infections (SMR, 4.946; 95% CI, 4.253-5.639; <i>p</i> < .001), cardiovascular diseases (CVD) (SMR, 2.931; 95% CI, 1.802-4.061; <i>p</i> < .001), cerebrovascular accidents (CVA) (SMR, 1.588; 95% CI, 0.647-2.528; <i>p</i> = .001), and cancer (SMR, 1.698; 95% CI, 0.871-2.525; <i>p</i> < .001).</p><p><strong>Conclusions: </strong>This meta-analysis underscores a significant 2.87-fold elevation in the SMR among patients with SLE compared to the general population, transcending differences in sex or geographical regions. Moreover, an appreciable increase in mortality due to specific causes, including renal disease, infection, CVD, CVA, malignancy, and neuropsychiatric SLE, accentuates the imperative for targeted interventions to mitigate these elevated risks in SLE patients.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141071366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uncommon toxic epidermal necrolysis -like presentation of cutaneous lupus erythematosus: A series of 6 cases.","authors":"Varun Rajagopal, Anupama Bains, Karthick Kannan, Abhishek Bhardwaj, Poonam Elhence","doi":"10.1177/09612033241255266","DOIUrl":"10.1177/09612033241255266","url":null,"abstract":"<p><p>TEN like Lupus erythematosus is an uncommon life-threatening variant of Lupus erythematosus. It is usually associated with flares of systemic lupus erythematosus and also because of widespread skin erosions, it can cause acute skin failure. It is often confused with drug induced TEN, however the management of both the diseases is different and hence correct diagnosis becomes crucial. In this study we aimed to assess the clinical characteristics and outcome of TEN like LE in the Indian population. All patients satisfying ACR/EULAR 2019 criteria for SLE and clinically diagnosed with TEN like LE were retrospectively reviewed. A total of 6 patients were identified. All patients were female. Except 1 patient who presented de-novo, the others had pre-existing symptoms of connective tissue disease. Half of the patients had palmoplantar involvement. Mucosal involvement was only mild. Majority had systemic involvement in the form of nephritis followed by arthralgia, autoimmune hepatitis and autoimmune hemolytic anemia.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of genetic mutations underlying early-onset systemic lupus erythematosus.","authors":"Seher Sener, Erdal Sag, Xu Han, Yelda Bilginer, Qing Zhou, Seza Ozen","doi":"10.1177/09612033241255011","DOIUrl":"10.1177/09612033241255011","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the presence of monogenic causes of systemic lupus erythematosus (SLE) in our early-onset SLE patients.</p><p><strong>Methods: </strong>Fifteen pediatric SLE cases who had early disease onset (≤6 years) were enrolled in this study. All patients fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) criteria. Genomic DNA was used for whole exome sequencing (WES). Pathogenic variants were confirmed by Sanger sequencing.</p><p><strong>Results: </strong>The median age at diagnosis of 15 early-onset SLE patients included in the study was 4 (2-6) years (F/M = 12/3). Significant gene mutations were detected in five of these patients (33.3%). Patients 1 and 2 with homozygous <i>DNASE1L3</i> mutations [<i>c.320+4_320+7del</i> and <i>G188 A (c.563 G>C)</i> variants] had skin involvement and oral ulcers. One of them (patient 1) had arthritis and nephritis, and another (patient 2) had nonscarring alopecia and thrombocytopenia. They are currently clinically inactive but have positive serological findings. Patient 3 with homozygous pathogenic <i>ACP5</i> mutation [<i>G109 R (c.325 G>A)</i> variant] had arthritis, nephritis, short stature, and skeletal dysplasia. Patient 4 with a heterozygote novel <i>IFIH1</i> mutation [<i>L809 F (c.2425 C>T)</i> variant] had skin findings and leukopenia. Patient 5 with novel <i>C1S</i> variant [homozygous <i>C147 W (c.441 C>G)</i> variant] had marked skin findings, oral ulcers, nonscarring alopecia, pancytopenia, and low total hemolytic complement CH50 level. All patients have responded to the treatments and have low Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores, on therapy.</p><p><strong>Conclusion: </strong>Genetic causes should be investigated in early-onset SLE, for better management and genetic counseling. On the other hand, multicenter studies may help to further define genotype-phenotype associations.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Growth arrest-specific protein 6 as a marker of nephritis in systemic sclerosis and juvenile systemic lupus erythematosus patients.","authors":"Alshymaa A Ahmed, Dina Said, May M Sami","doi":"10.1177/09612033241257321","DOIUrl":"10.1177/09612033241257321","url":null,"abstract":"<p><p><b>Background:</b> Renal impairments commonly occur as a complication of autoimmune connective tissue diseases (CTDs). Therefore, early nephritis prediction is vital for patient outcomes. Growth Arrest-Specific Protein 6 (GAS6) was found to be upregulated in many types of inflammatory renal disease, including diabetic nephropathy.<b>Aim:</b> To evaluate GAS6 as a predictor of renal impairment in adults with systemic sclerosis (SSc) and children with systemic lupus Erythematosus (SLE).<b>Methods:</b> The study included 60 patients with SSc and 40 children with SLE. The serum level of GAS6 was measured using the ELISA technique. In adults with SSc, total proteins in 24-h urine concentration of >300 mg/24 h indicated renal inflammation, while in children with SLE, nephritis was diagnosed by abnormal renal pathology.<b>Results:</b> In SSc patients, GAS6 significantly increased in patients with proteinuria. GAS6 is an independent predictor of nephritis with an odds ratio (OR) of 1.06 and a 95% confidence interval (CI) of 1.0-1.1. at cutoff 12.2 ng/mL GAS6 predicted proteinuria with sensitivity 86.7% (95% CI: 59.5% to 98.3%), specificity 57.8% (95% CI: 42.1% to 72.3%), positive predictive value 40.6% (95% CI: 31.5% to 50.4%), negative predictive value 92.9% (95% CI: 77.7% to 97.73%), and accuracy 65.0% (95% CI: 51.6% to 76.9%). In SLE patients, Serum GAS6 did not differ significantly between children with and without lupus nephritis.<b>Conclusion:</b> GAS6 is an independent predictor of nephritis in patients with SSc. However, there is no association between GAS6 and nephritis in juvenile patients with SLE.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of intimate partner violence on quality of life and disease activity in women with systemic lupus erythematosus.","authors":"Emmanuel Campos-Tinajero, Maria Fernanda Ortiz-Nuño, Diana Paola Flores-Gutierrez, Jorge Antonio Esquivel-Valerio, Gisela Garcia-Arellano, Jesus Alberto Cardenas-de la Garza, Estefania Aguilar-Rivera, Dionicio A Galarza-Delgado, Griselda Serna-Peña","doi":"10.1177/09612033241260227","DOIUrl":"10.1177/09612033241260227","url":null,"abstract":"<p><strong>Objective: </strong>Stress and trauma are psychosocial factors with an impact on the course of systemic lupus erythematosus (SLE). The influence of violence on SLE has not been entirely explored, even though women (including patients with rheumatic diseases) are a vulnerable population to any form of violence. This study aims to assess the prevalence and impact of intimate partner violence (IPV) on health-related quality of life in women with SLE.</p><p><strong>Methods: </strong>An observational, cross-sectional, and analytical study was conducted at a rheumatology clinic of a university hospital from September 2022 and September 2023. We evaluated the presence of IPV in 85 women with SLE with the Hurt, Insulted, Threatened with Harm and Screamed at (HITS) questionnaire and the Index of Spouse Abuse (ISA), and quality of life with LupusQoL.</p><p><strong>Results: </strong>The prevalence by HITS score of past-year IPV was 24.4% and of lifetime IPV was 36.5%. Past-year non-physical violence was present in 17.1% of patients by ISA, and 27.1% were victims in their lifetime. While in physical violence, 7.3% were victims in the previous year and 21.2% in their lifetime. The total quality of life and the emotional domain by LupusQoL were diminished in victims of past-year IPV, compared to those who weren't exposed (<i>p</i> = .018 and <i>p</i> = .036, respectively). Past-year HITS score correlated with the Physician Global Assessment (PGA) (rho = 0.301, <i>p</i> = .006), while lifetime HITS score correlated with PGA (rho = 0.329, <i>p</i> = .002) and SLEDAI-2K (rho = 0.277, <i>p</i> = .010).</p><p><strong>Conclusion: </strong>We found that one in four women suffered IPV in the previous year, and those who were exposed had diminished quality of life. Also, the severity of the abuse correlated with disease activity. Our findings emphasize the importance of comprehensive care for patients with SLE.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141284098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sustained depression of B cell counts in lupus nephritis after treatment with rituximab and/or belimumab is associated with fewer disease flares.","authors":"Diane Zisa, Jeffrey Zhang-Sun, Paul J Christos, Kyriakos A Kirou","doi":"10.1177/09612033241260283","DOIUrl":"10.1177/09612033241260283","url":null,"abstract":"<p><strong>Objective: </strong>To study the risk of lupus nephritis flare (LNF) or severe lupus flare (SLF) as a function of B cell count kinetics in lupus nephritis (LN) patients after they achieve at least a partial renal response (PRR) with induction treatment that includes rituximab (RTX) and/or belimumab (BLM).</p><p><strong>Methods: </strong>We performed a retrospective analysis of a cohort of 19 patients with severe LN that received a B cell agent (BCA), RTX and/or BLM, as part of an initial treatment regimen for an LN flare and had subsequent CD19+ B cell measurements in peripheral blood. We then characterized the follow-up periods, after B cell depressions occurred and PRR were achieved, by the corresponding trajectories of B cell counts (BCC). Time periods with sustained low BCC were type 1 (T1) episodes, while those with repletion of BCC>100 cells/μL were called type 2 (T2) episodes. Time periods with rapid BCC repletion, defined as >50 cells/μL in ≤6 months, were called T2b episodes. Corresponding C3, C4, and anti-dsDNA levels were recorded for each episode. The time from PRR until an event, either a LNF or SLF, or to censoring, either at the end of the study period or the end of available patient follow-up, was assessed for each episode type. Kaplan-Meier survival analysis was used to compare time to flare between T1 and T2 episodes.</p><p><strong>Results: </strong>There were 26 episodes of B cell depression. Seventeen (65%) were T1 and 9 (35%) were T2. Compared to T1 episodes, T2 episodes were 9.0 times more likely to result in flare over the follow-up period (hazard ratio (HR) = 9.0, 95% CI for HR = 2.2-36.7); this risk was even larger for T2b vs T1 episodes. Median BCC was 14 cells/μL in T1 and 160 cells/μL in T2 episodes. Both C3 and C4 levels significantly increased over the duration of the episode in T1 episodes only.</p><p><strong>Conclusion: </strong>Sustained low BCC was associated with prolonged serologic and clinical response, whereas repletion, and particularly rapid repletion, of B cells after treatment with BCA was associated with subsequent disease flare.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11326872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of c.+677 C>T (rs1801133) and c.+1298 A>C (rs1801131) <i>MTHFR</i> genetic variants with cardiometabolic and disease risk in systemic lupus erythematosus patients: A cross-sectional study.","authors":"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","doi":"10.1177/09612033241257158","DOIUrl":"10.1177/09612033241257158","url":null,"abstract":"<p><p>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) <i>MTHFR</i> 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 <i>MTHFR</i> genetic variants was carried out by allelic discrimination. No significant differences were found for folic acid (<i>p</i> = .15) and homocysteine serum levels (<i>p</i> = .59) between groups. According to the CC c.+677 <i>MTHFR</i> genotype, this was associated with low cardiovascular disease (CVD) risk by the Castelli index (OR = 0.42; <i>p</i> = .03) in SLE patients. The TC (OR = 1.3; <i>p</i> = .03) and the TA (OR = 1.6; <i>p</i> < .01) haplotypes from c.+677 C>T plus c.+1298 <i>MTHFR</i> were associated with SLE risk, while the CC <i>MTHFR</i> haplotype (OR = 0.5; <i>p</i> = .01) was found as a non-risk factor for the disease. In conclusion, the TC and the TA <i>MTHFR</i> haplotypes are associated with disease risk; meanwhile, the CC c.+677 <i>MTHFR</i> genotype confers lower cardiometabolic risk in Mexican-mestizo SLE patients.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141086308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}