ABSTRACT
Autoimmune disease disproportionately afflicts women of color (i.e., Black/African American, Hispanic/Latina, Multiethnic-racial) of childbearing age. Social determinants of health (SDOH) and dismissive healthcare provider (HCP) interactions exacerbate these disparities in health outcomes for women of color with autoimmune disease. Guided by the theory of communicative (dis)enfranchisement, this study assesses whether disenfranchising talk (DT) mediates the relationship between SDOH (i.e., race/ethnicity, insurance status, income, employment, education, and sexual orientation) and health outcomes including patient satisfaction, overall well-being, and tangible social support for women of color with autoimmune disease. Findings affirmed the mediating role of DT, such that Multiethnic-racial patients and those with less insurance coverage and lower household income reported less tangible social support, poorer overall well-being, and lower patient satisfaction when they experienced HCP DT. We offer theoretical and practical implications.
Subject(s)
Autoimmune Diseases , Black or African American , Hispanic or Latino , Social Determinants of Health , Social Support , Humans , Female , Adult , Black or African American/psychology , Black or African American/statistics & numerical data , Hispanic or Latino/psychology , Hispanic or Latino/statistics & numerical data , Autoimmune Diseases/psychology , Autoimmune Diseases/ethnology , Middle Aged , Patient Satisfaction/statistics & numerical data , Young Adult , Communication , Healthcare Disparities/ethnologyABSTRACT
BACKGROUND: The relationship between race and ethnicity, wage status, and specialty medication (SpRx) use among employees with autoimmune conditions (AICs) is poorly understood. Insight into sociodemographic variations in use of these medications can inform health equity improvement efforts. OBJECTIVE: To assess the association of race and ethnicity and wage status on SpRx use and adherence patterns among employees with AICs enrolled in employer-sponsored health insurance. METHODS: In this observational, retrospective cohort analysis, data were obtained from the IBM Watson MarketScan database for calendar year 2018. Employees were separated into race and ethnicity subgroups based on employer-provided data. Midyear employee wage data were used to allocate employees into the following annual income quartiles: $47,000 or less, $47,001-$71,000, $71,001-$106,000, and $106,001 or more. The lowest quartile was further divided into 2 groups ($35,000 or less and $35,001-$47,000) to better evaluate subgroup differences. Outcomes included monthly days SpRx-AIC supply, proportion of days covered (PDC), and medication discontinuation rates. Generalized linear regressions were used to assess differences while adjusting for patient and other characteristics. RESULTS: From a sample of more than 2,000,000 enrollees, race and ethnicity data were available for 617,117 (29.8%). Of those, 47,839 (7.8%) were identified as having an AIC of interest, with prevalence rates of AICs differing by race within wage categories. Among those with AICs, 5,358 (11.2%) had filled at least 1 SpRx-AIC prescription. Following adjustment, except for the highest wage category, prevalence of SpRx-AIC use was significantly less among Black and Hispanic subpopulations. Black patients had significantly lower SpRx-AIC use rates than White patients (≤$35,000: 4.9 vs 9.4%, >$35,000-$47,000: 5.5 vs 10.6%, >$47,000-$71,000: 8.5 vs 11.1%, and >$71,000-$106,000: 9.1 vs 12.7%; P <0.001 for all). For Hispanic patients, prevalence rates were significantly lower than White patients in 3 different wage categories (≤$35,000: 4.5 vs 9.4%, >$35,000-$47,000: 6.1 vs 10.6%, and >$71,000-$106,000: 8.6 vs 12.7%; P < 0.001). PDC and 90-day discontinuation rates did not differ among race and ethnicity groups within the respective wage bands. CONCLUSIONS: Race and ethnicity and wage-related disparities exist in SpRx use, but not PDC or discontinuation rates for treatment of AICs among non-White and low-income populations with employer-sponsored insurance, and may adversely impact clinical outcomes.
Subject(s)
Autoimmune Diseases , Health Benefit Plans, Employee , Salaries and Fringe Benefits , Adult , Female , Humans , Male , Middle Aged , Young Adult , Autoimmune Diseases/drug therapy , Autoimmune Diseases/ethnology , Cohort Studies , Ethnicity/statistics & numerical data , Health Benefit Plans, Employee/economics , Health Benefit Plans, Employee/statistics & numerical data , Racial Groups/statistics & numerical data , Retrospective Studies , Salaries and Fringe Benefits/statistics & numerical data , United States , Black or African American , Hispanic or Latino , WhiteABSTRACT
OBJECTIVES: Statin-associated immune-mediated necrotizing myopathy (IMNM) and idiopathic inflammatory myositis (IIM) are myopathies with overlapping features. This study compared the manifestations of IMNM to IIM in Native Americans. METHOD: Twenty-one Native American patients with inflammatory myopathy (IM) were characterized as to diabetes mellitus, hyperlipidaemia, statin exposure, myopathy diagnosis, muscle histology, autoimmune and myositis-specific autoantibodies, therapy and outcome. RESULTS: IM consisted of 52.4% IMNM, 42.9% IIM and 4.8% metabolic myopathy. IMNM vs IIM patients were older [61.6 years (s.d. 9.8) vs 39.8 (14.3)], diabetes mellitus (100% vs 55.6%), hyperlipidaemia (100% vs 33.3%), statin-exposure (100% vs 22.2%), creatine kinase [CK; 11 780 IU (s.d. 7064) vs 1707 (1658)], anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) antibodies (85.7% vs 11.1%) and necrotizing IM (81.8% vs 11.1%), but shorter disease duration [26.2 months (s.d. 395) vs 78.4 (47.9)], RP (9.1% vs 55.6%), cutaneous manifestations (0% vs 55.6%), ANA (18.2% vs 66.7%) or any autoantibody (18.2% vs 88.9%) (all P < 0.05). MRI abnormalities, histologic IM, myositis-specific autoantibodies, pulmonary hypertension, oesophageal dysfunction, interstitial lung disease, disability and persistently elevated CK were similar. IMNM vs IIM was treated more with IVIG (72.7% vs 11.1%; P = 0.009) and less with antimetabolites (45.5% vs 88.9%; P = 0.05) and rituximab (18.2% vs 55.6%; P = 0.09). CONCLUSIONS: IMNM may occur in Native Americans and is associated with diabetes mellitus, hyperlipidaemia, statin use and older age and is characterized by marked CK elevation, necrotizing myopathy and anti-HMGCR antibodies with few cutaneous or vascular manifestations.
Subject(s)
Autoimmune Diseases , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Myositis , Humans , Autoantibodies , Autoimmune Diseases/chemically induced , Autoimmune Diseases/ethnology , Creatine Kinase , Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects , Myositis/chemically induced , Myositis/ethnology , Necrosis/chemically induced , Necrosis/ethnology , American Indian or Alaska NativeABSTRACT
Human complement C4 is one of the most diverse but heritable effectors for humoral immunity. To help understand the roles of C4 in the defense and pathogenesis of autoimmune and inflammatory diseases, we determined the bases of polymorphisms including the frequent genetic deficiency of C4A and/or C4B isotypes. We demonstrated the diversities of C4A and C4B proteins and their gene copy number variations (CNVs) in healthy subjects and patients with autoimmune disease, such as type 1 diabetes, systemic lupus erythematosus (SLE) and encephalitis. We identified subjects with (a) the fastest migrating C4B allotype, B7, or (b) a deficiency of C4B protein caused by genetic mutation in addition to gene copy-number variation. Those variants and mutants were characterized, sequenced and specific techniques for detection developed. Novel findings were made in four case series. First, the amino acid sequence determinant for C4B7 was likely the R729Q variation at the anaphylatoxin-like region. Second, in healthy White subject MS630, a C-nucleotide deletion at codon-755 led to frameshift mutations in his single C4B gene, which was a private mutation. Third, in European family E94 with multiplex lupus-related mortality and low serum C4 levels, the culprit was a recurrent haplotype with HLA-A30, B18 and DR7 that segregated with two defective C4B genes and identical mutations at the donor splice site of intron-28. Fourth, in East-Asian subject E133P with anti-NMDA receptor encephalitis, the C4B gene had a mutation that changed tryptophan-660 to a stop-codon (W660x), which was present in a haplotype with HLA-DRB1*04:06 and B*15:27. The W660x mutation is recurrent among East-Asians with a frequency of 1.5% but not detectable among patients with SLE. A meticulous annotation of C4 sequences revealed clusters of variations proximal to sites for protein processing, activation and inactivation, and binding of interacting molecules.
Subject(s)
Autoimmune Diseases/genetics , Complement C4b/genetics , DNA Copy Number Variations , Gene Dosage , Immunity, Humoral/genetics , Mutation , Autoimmune Diseases/diagnosis , Autoimmune Diseases/ethnology , Autoimmune Diseases/immunology , Case-Control Studies , Complement C4a/deficiency , Complement C4a/genetics , Complement C4a/immunology , Complement C4b/deficiency , Complement C4b/immunology , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Male , PhenotypeABSTRACT
AIM: The interval between symptom onset and diagnosis (pre-diagnosis interval) can at times be longer than is ideal in patients with autoimmune rheumatic diseases (ARDs). In this study, we aimed to characterize this interval and to identify its associated factors. METHOD: We characterized pre-diagnosis interval into 4 intervals: Interval #1 between symptom onset and first visit to healthcare professionals; Interval #2 between first visit to healthcare professionals and rheumatology referral; Interval #3 between rheumatology referral and first rheumatology assessment; and Interval #4 between first rheumatology assessment and diagnosis. Median regression models were used to identify factors associated with longer pre-diagnosis interval and Interval #1. RESULTS: Among 259 patients (median age = 52.0 [41.6-61.9] years, 71% female, rheumatoid arthritis [n = 75], axial spondyloarthritis [axSpA] [n = 40] and psoriatic arthritis [n = 35]), median pre-diagnosis interval was 11.5 (4.7-36.0) months. Interval #1 (median = 4.9 months) was significantly longer than Intervals #2-#4 (median = 0.3, 1.5, and 0.0 months, respectively). Patients with axSpA had significantly longer pre-diagnosis interval (median = 38.7 months) and Interval #1 (median = 26.6 months) than patients with the other ARDs. Median regression suggested that patients referred from specialty care had significantly longer pre-diagnosis interval (median difference = 7.7 months) and Interval #1 (median difference = 6.4 months) compared to those referred from primary care. CONCLUSION: A long pre-diagnosis interval was observed among patients with ARDs (especially axSpA), due largely to a long interval between symptom onset and the first visit to healthcare professionals. This highlights the importance of interventions targeting patients prior to their first visit to healthcare professionals in reducing pre-diagnosis interval.
Subject(s)
Asian People , Autoimmune Diseases/diagnosis , Delayed Diagnosis , Rheumatic Diseases/diagnosis , Adult , Aged , Autoimmune Diseases/ethnology , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Referral and Consultation , Rheumatic Diseases/ethnology , Risk Assessment , Risk Factors , Singapore/epidemiology , Symptom Assessment , Time FactorsABSTRACT
OBJECTIVE: To evaluate systematically the association between TBX21 gene polymorphisms (rs17250932, rs2240017, and rs4794067) and the risk of autoimmune diseases in Asian populations. METHODS: The Medline, Web of Science, and Chinese Biomedical Literature Database were used to retrieve eligible studies that were published before July 2020. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated by using the dominant model, heterozygote contrast model, and allelic contrast model. Publication bias was evaluated using contour-enhanced funnel plots and Egger's regression test. Sensitivity analysis was conducted to assess the robustness of this meta-analysis. RESULTS: A total of 12 eligible studies, including 3834 patients and 4824 healthy controls, were recruited in this meta-analysis. The pooled data demonstrated that TBX21 rs2240017 and rs4794067 polymorphisms were significantly associated with the risk of autoimmune diseases in Asian populations in allelic contrast model (OR: 1.456, 95% CI: 1.131-1.875, P = 0.004; OR: 0.766, 95% CI: 0.615-0.954, P = 0.017), heterozygote comparison model (OR: 1.647, 95% CI: 1.239-2.189, P = 0.001; OR: 0.796, 95% CI: 0.634-0.999, P = 0.049), and dominant model (OR: 1.572, 95% CI: 1.194-2.071, P = 0.004; OR: 0.767, 95% CI: 0.607-0.970, P = 0.027). The G allele of rs2240017 may be a risk factor for autoimmune diseases, and the T allele of rs4794067 may increase the risk of autoimmune diseases. However, we failed to find evidence of the association between TBX21 rs17250932 polymorphism and susceptibility to autoimmune diseases. No publication bias was established in this meta-analysis. CONCLUSION: This meta-analysis indicated that TBX21 rs2240017 and rs4794067 polymorphism confer susceptibility to autoimmune diseases, but not rs17250932.
Subject(s)
Autoimmune Diseases/genetics , Polymorphism, Single Nucleotide/genetics , T-Box Domain Proteins/genetics , Alleles , Asian People , Autoimmune Diseases/ethnology , Confidence Intervals , Humans , Models, Genetic , Odds Ratio , Publication BiasABSTRACT
Objective: To evaluate systematically the association between TBX21 gene polymorphisms (rs17250932, rs2240017, and rs4794067) and the risk of autoimmune diseases in Asian populations. Methods: The Medline, Web of Science, and Chinese Biomedical Literature Database were used to retrieve eligible studies that were published before July 2020. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated by using the dominant model, heterozygote contrast model, and allelic contrast model. Publication bias was evaluated using contour-enhanced funnel plots and Eggers regression test. Sensitivity analysis was conducted to assess the robustness of this meta-analysis. Results: A total of 12 eligible studies, including 3834 patients and 4824 healthy controls, were recruited in this meta-analysis. The pooled data demonstrated that TBX21 rs2240017 and rs4794067 polymorphisms were significantly associated with the risk of autoimmune diseases in Asian populations in allelic contrast model (OR: 1.456, 95% CI: 1.1311.875, P = 0.004; OR: 0.766, 95% CI: 0.6150.954, P = 0.017), heterozygote comparison model (OR: 1.647, 95% CI: 1.2392.189, P = 0.001; OR: 0.796, 95% CI: 0.6340.999, P = 0.049), and dominant model (OR: 1.572, 95% CI: 1.1942.071, P = 0.004; OR: 0.767, 95% CI: 0.6070.970, P = 0.027). The G allele of rs2240017 may be a risk factor for autoimmune diseases, and the T allele of rs4794067 may increase the risk of autoimmune diseases. However, we failed to find evidence of the association between TBX21 rs17250932 polymorphism and susceptibility to autoimmune diseases. No publication bias was established in this meta-analysis. Conclusion: This meta-analysis indicated that TBX21 rs2240017 and rs4794067 polymorphism confer susceptibility to autoimmune diseases, but not rs17250932 (AU)
Subject(s)
Humans , Autoimmune Diseases/genetics , Polymorphism, Single Nucleotide/genetics , T-Box Domain Proteins/genetics , Autoimmune Diseases/ethnology , Confidence Intervals , Models, Genetic , Odds Ratio , Alleles , AsiaABSTRACT
Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal surfactant homeostasis, with a prevalence of 6-7 cases per million population worldwide. While mutations causing hereditary PAP have been reported, the genetic basis contributing to autoimmune PAP (aPAP) has not been thoroughly investigated. Here, we conducted a genome-wide association study of aPAP in 198 patients and 395 control participants of Japanese ancestry. The common genetic variant, rs138024423 at 6p21, in the major-histocompatibility-complex (MHC) region was significantly associated with disease risk (Odds ratio [OR] = 5.2; P = 2.4 × 10-12). HLA fine-mapping revealed that the common HLA class II allele, HLA-DRB1*08:03, strongly drove this signal (OR = 4.8; P = 4.8 × 10-12), followed by an additional independent risk allele at HLA-DPß1 amino acid position 8 (OR = 0.28; P = 3.4 × 10-7). HLA-DRB1*08:03 was also associated with an increased level of anti-GM-CSF antibody, a key driver of the disease (ß = 0.32; P = 0.035). Our study demonstrated a heritable component of aPAP, suggesting an underlying genetic predisposition toward an abnormal antibody production.
Subject(s)
Autoantibodies/genetics , Autoimmune Diseases/genetics , Genetic Predisposition to Disease , Granulocyte-Macrophage Colony-Stimulating Factor/genetics , HLA-DRB1 Chains/genetics , Pulmonary Alveolar Proteinosis/genetics , Adult , Aged , Alleles , Asian People , Autoantibodies/biosynthesis , Autoimmune Diseases/ethnology , Autoimmune Diseases/immunology , Autoimmune Diseases/pathology , Case-Control Studies , Chromosomes, Human, Pair 6 , Female , Gene Expression , Gene Frequency , Genome-Wide Association Study , Granulocyte-Macrophage Colony-Stimulating Factor/antagonists & inhibitors , Granulocyte-Macrophage Colony-Stimulating Factor/immunology , HLA-DRB1 Chains/immunology , Humans , Japan , Male , Middle Aged , Odds Ratio , Protein Isoforms/genetics , Pulmonary Alveolar Proteinosis/ethnology , Pulmonary Alveolar Proteinosis/immunology , Pulmonary Alveolar Proteinosis/pathology , Pulmonary Surfactants/immunology , Pulmonary Surfactants/metabolism , RiskABSTRACT
Since the discovery of human leukocyte antigens (HLAs), the function of major histocompatibility complex (MHC) gene families in a wide range of diseases have been the subject of research for decades. In particular, the associations of autoimmune disorders to allelic variants and candidate genes encoding the MHC are well documented. However, despite decades of research, the knowledge of MHC associations with human disease susceptibility have been predominantly studied in European origin, with limited understanding in different populations and ethnic groups. This is particularly evident in countries and ethnic populations of the Arabian Peninsula. Human MHC haplotypes, and its association with diseases, of the variable ethnic groups of this region are poorly studied. This review compiled published manuscripts that have reported a list of autoimmune diseases (insulin-dependent diabetes mellitus, systemic lupus erythematosus, myasthenia gravis, rheumatoid arthritis, psoriasis vulgaris, and multiple sclerosis) associated with MHC class I and class II in the populations of the Arabian Peninsula, specifically Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, the United Arab Emirates, and Yemen. Data available was compared with other three ethnic groups, namely Caucasians, Asians, and Africans. The limited data available in the public domain on the association between MHC gene and autoimmune diseases highlight the challenges in the Middle Eastern region.
Subject(s)
Autoimmune Diseases/ethnology , Autoimmune Diseases/genetics , Genetic Predisposition to Disease/genetics , Major Histocompatibility Complex/genetics , Alleles , Ethnicity , Genetic Variation , HLA Antigens/genetics , Haplotypes , Humans , Middle EastSubject(s)
Autoimmune Diseases/ethnology , Hypersensitivity/ethnology , Anemia, Pernicious/ethnology , Arthritis, Rheumatoid/ethnology , Asian People , Asthma/ethnology , Black People , Celiac Disease/ethnology , Cohort Studies , Conjunctivitis, Allergic/ethnology , Dermatitis, Atopic/ethnology , Humans , Incidence , Inflammatory Bowel Diseases/ethnology , Lupus Erythematosus, Systemic/ethnology , Multiple Sclerosis/ethnology , Myasthenia Gravis/ethnology , Psoriasis/ethnology , Retrospective Studies , Rhinitis, Allergic/ethnology , Sjogren's Syndrome/ethnology , Thyroiditis, Autoimmune/ethnology , United Kingdom/epidemiology , Vitiligo/ethnology , White PeopleABSTRACT
OBJECTIVE: There is emerging evidence that COVID-19 disproportionately affects people from racial/ethnic minority and low socioeconomic status (SES) groups. Many physicians across the globe are changing practice patterns in response to the COVID-19 pandemic. We sought to examine the practice changes among rheumatologists and what they perceive the impact to be on their most vulnerable patients. METHODS: We administered an online survey to a convenience sample of rheumatologists worldwide during the initial height of the pandemic (between 8 April and 4 May 2020) via social media and group emails. We surveyed rheumatologists about their opinions regarding patients from low SES and racial/ethnic minority groups in the context of the COVID-19 pandemic. Mainly, what their specific concerns were, including the challenges of medication access; and about specific social factors (health literacy, poverty, food insecurity, access to telehealth video) that may be complicating the management of rheumatologic conditions during this time. RESULTS: 548 rheumatologists responded from 64 countries and shared concerns of food insecurity, low health literacy, poverty and factors that preclude social distancing such as working and dense housing conditions among their patients. Although 82% of rheumatologists had switched to telehealth video, 17% of respondents estimated that about a quarter of their patients did not have access to telehealth video, especially those from below the poverty line. The majority of respondents believed these vulnerable patients, from racial/ethnic minorities and from low SES groups, would do worse, in terms of morbidity and mortality, during the pandemic. CONCLUSION: In this sample of rheumatologists from 64 countries, there is a clear shift in practice to telehealth video consultations and widespread concern for socially and economically vulnerable patients with rheumatic disease.
Subject(s)
Autoimmune Diseases/ethnology , Betacoronavirus , Coronavirus Infections/epidemiology , Ethnicity , Minority Groups , Pneumonia, Viral/epidemiology , Poverty , Racial Groups , Rheumatic Diseases/ethnology , Autoimmune Diseases/mortality , COVID-19 , Coronavirus Infections/mortality , Coronavirus Infections/virology , Food Supply/economics , Health Literacy , Housing , Humans , Pandemics , Pneumonia, Viral/mortality , Pneumonia, Viral/virology , Rheumatic Diseases/mortality , Rheumatologists , SARS-CoV-2 , Surveys and Questionnaires , TelemedicineABSTRACT
Immune-mediated necrotising myopathy (IMNM) is a recently described entity. We describe a cohort of South Australian IMNM patients in order to define the spectrum of disease, characterise features that distinguish IMNM from other idiopathic inflammatory myopathy (IIM) subtypes and identify factors associated with clinically severe disease. Subjects were identified from the South Australian Myositis Database (SAMD), a histologically defined registry. Consecutive muscle sections from patients with IMNM (nâ¯=â¯62), other forms of IIM (nâ¯=â¯60) and histologically normal muscle (nâ¯=â¯17) were stained using immunohistochemistry and graded. Clinical information was collected from the SAMD and through retrospective chart review. IMNM patients displayed clinical and histological heterogeneity. While most (67%) were profoundly weak at presentation, 24% exhibited mild to moderate weakness and 9% had normal power. Histological myonecrosis ranged from minor to florid. The amount of myofibre complement deposition was closely associated with clinical severity. Patients of Aboriginal and Torres Strait Islander heritage and those with anti-SRP autoantibodies present with a severe phenotype. Despite intense immunotherapy, few IMNM patients recovered full power at one year follow up. The identification of clinical, serological and histological features which are associated with severe forms of the disease may have diagnostic and therapeutic utility.
Subject(s)
Autoimmune Diseases , Myositis , Native Hawaiian or Other Pacific Islander/ethnology , Necrosis , Registries , Aged , Autoantibodies/blood , Autoimmune Diseases/ethnology , Autoimmune Diseases/immunology , Autoimmune Diseases/pathology , Autoimmune Diseases/physiopathology , Female , Follow-Up Studies , Humans , Immunotherapy , Male , Middle Aged , Myositis/ethnology , Myositis/immunology , Myositis/pathology , Myositis/physiopathology , Necrosis/ethnology , Necrosis/immunology , Necrosis/pathology , Necrosis/physiopathology , Phenotype , Retrospective Studies , Severity of Illness Index , South Australia/ethnologyABSTRACT
BACKGROUND: Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are chronic, relapsing, inflammatory diseases of the gastrointestinal tract with unknown etiology. IBD are complex, multi-factorial disorders, in which genetic factors play a major role, the so-called phenomenon of familial aggregation or clustering of IBD. A positive family history of IBD is often reported among CD and UC probands, with percentages depending on the geographic context in which the studies are carried out. Israel is a complex and pluralistic society comprising of two major ethno-national groups (Arabs and Jewish) and, as such, represents a unique living laboratory in which to test the role of genetic factors in the development of IBD as well as of associated autoimmune disorders (ADs). While some studies have found a lower prevalence of ADs among Arabs when compared to Jews, few studies directly compared the two ethnicities. METHODS: The present case-control study was designed to compare the rate of ADs in first- and second-degree relatives of IBD patients, stratified according to Jewish or Arabic ethnicity. RESULTS: We found that first-degree relatives of Jews patients had a higher risk of developing ADs (OR=1.89, P=0.0086). Classifying ADs into systemic and local (endocrinological, gastrointestinal, dermatological, and neurological) types, first-degree relatives of Jews patients had a higher OR of developing local ADs (OR=2.12, P=0.0056). CONCLUSIONS: Israeli Jewish IBD patients had more first-degree relatives with local ADs as compared to Arab patients.
Subject(s)
Autoimmune Diseases/epidemiology , Family Health/statistics & numerical data , Inflammatory Bowel Diseases/epidemiology , Pedigree , Adolescent , Adult , Aged , Aged, 80 and over , Arabs/statistics & numerical data , Autoimmune Diseases/ethnology , Case-Control Studies , Child , Family Health/ethnology , Female , Humans , Inflammatory Bowel Diseases/ethnology , Inflammatory Bowel Diseases/immunology , Israel/epidemiology , Israel/ethnology , Jews/statistics & numerical data , Male , Middle Aged , Young AdultABSTRACT
OBJECTIVES: FAS plays a critical role in the extrinsic apoptosis pathway in autoimmune diseases. Previous studies investigating the association between FAS gene -670 A/G and -1377 G/A polymorphisms and the risk of autoimmune diseases reported controversial results. We performed the meta-analysis to evaluate the possible association. METHODS: Relevant studies were identified by searching the PubMed, Embase, CNKI, and Wanfang databases up to December 2018. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated to determine the association. RESULTS: A total of 43 articles including 67 studies (52 studies for FAS -670 A/G and 15 studies for -1377 G/A) were included in the meta-analysis. Our meta-analysis showed that the FAS -670 A/G polymorphism was associated with the risk of autoimmune diseases (GG vs. GA: OR = 1.079, 95% CI = 1.004-1.160, P=0.038), especially in Caucasians (GG vs. GA: OR = 1.12, 95% CI = 1.03-1.23, P=0.012), Asians (G vs. A: OR = 0.89, 95% CI = 0.83-0.96, P=0.002), systemic lupus erythematosus (SLE) (G vs. A: OR = 0.85, 95% CI = 0.77-0.94, P=0.001), multiple sclerosis (MS) (GG+GA vs. AA: OR = 0.83, 95% CI = 0.70-0.99, P=0.043), systemic sclerosis (SSc) (GG vs. GA: OR = 1.20, 95% CI = 1.07-1.36, P=0.003) and Hashimoto's thyroiditis (HT) (G vs. A: OR = 1.45, 95% CI = 1.10-1.90, P=0.008); the FAS -1377 G/A polymorphism was associated with the risk of autoimmune diseases (A vs. G: OR = 1.11, 95% CI = 1.03-1.20, P=0.008), especially in Asians (A vs. G: OR = 1.15, 95% CI = 1.05-1.25, P=0.002) and high quality studies (A vs. G: OR = 1.14, 95% CI = 1.05-1.24, P=0.002). CONCLUSION: This meta-analysis demonstrated that the FAS -670A/G and -1377 G/A polymorphisms were associated with the risk of autoimmune diseases.
Subject(s)
Autoimmune Diseases/genetics , Autoimmunity/genetics , Polymorphism, Single Nucleotide , fas Receptor/genetics , Autoimmune Diseases/diagnosis , Autoimmune Diseases/ethnology , Autoimmune Diseases/immunology , Case-Control Studies , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Phenotype , Risk Assessment , Risk FactorsABSTRACT
PURPOSE: AIDs may disproportionately impact specific racial groups, but autoimmune (AID) prevalence information by minority racial group is sparse for many AIDs. The objective of this analysis was to supplement previously published AID prevalence rates by providing information on race rate ratios (minority race populations compared to Caucasian populations) in the United States. Preliminary to estimating race rate ratios, contemporary US-specific, health care utilization-based AID prevalence rates and female-to-male ratios were estimated and compared to previously published AID prevalence rates. METHODS: We used a large national electronic medical record database of 52 million individuals to estimate age-adjusted direct standardized rates for 22 AIDs for 2010 through 2016 by gender, race, and US census division. These were compared to previously published estimates. RESULTS: Female-to-male ratios were comparable with published studies. Almost all observed Multiracial AID rates were significantly higher than Caucasian rates, as well as 9 of 22 AID rates observed among Native Americans and 8 of 22 AID rates estimated among African-American patients. Regional variation was noted: highest African-American systemic lupus erythematosus rates were observed in the West North Central and South Atlantic divisions, highest African-American multiple sclerosis rates in the South Atlantic and Pacific divisions, and highest Native American rheumatoid arthritis rates in the West North Central, Mountain, and Pacific divisions. CONCLUSIONS: Substantial AID heterogeneity exists by race and by geographic area. An important research area is further exploring factors related to heterogeneity such as potential interactions between genetic susceptibility and environmental factors.
Subject(s)
Autoimmune Diseases/ethnology , Autoimmune Diseases/epidemiology , Lupus Erythematosus, Systemic/ethnology , Lupus Erythematosus, Systemic/epidemiology , Black or African American , Female , Geography, Medical , Humans , Male , Prevalence , Sex Ratio , United States/epidemiology , United States/ethnologyABSTRACT
BACKGROUND: Breast cancer is one of the most common malignancies among women. However, there remains no consensus in current literature on the incidence of autoimmune diseases among breast cancer patients. The purpose of this study was to evaluate the risks of major autoimmune diseases (MAD) including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Sjögren's syndrome (SS) and dermatomyositis (DMtis)/polymyositis (PM) in female breast cancer patients. METHODS: Using the Taiwanese National Health Insurance Research Database (NHIRD) records from 2003 to 2013, we identified newly-diagnosed female breast cancer patients and randomly selected females without breast cancer in the period 2007 to 2013 into a control group. We matched the two cohorts using a 1:4 ratio based on age, and the year of index date for comparison of the risk of major autoimmune diseases. We estimated and compared the relative risks of autoimmune diseases in female breast cancer patients and females without breast cancer. RESULTS: A total of 54,311 females with breast cancer and 217,244 matched females without breast cancer were included in this study. For SLE, the incidence rates were 2.3 (breast cancer group) vs. 10.0 (control group) per 100,000 women years; for RA rates were 19.3 (breast cancer group) vs. 42.7 (control group) per 100,000 women years; and for SS rates were 20.5 (breast cancer group) vs. 38.2 (control group) per 100,000 women years. After adjusting for potential confounders, the hazard ratios (95% confidence intervals) for female breast cancer patients vs. control group were 0.04 (0.01-0.24) for SLE; 0.03 (0.02-0.04) for RA; and 0.21 (0.09-0.48) for SS. CONCLUSION: Female breast cancer patients had lower risks of SLE, RA and SS when compared to female individuals without breast cancer. However, there was no significant difference in the risk of developing DMtis/PM between both groups.
Subject(s)
Autoimmune Diseases/epidemiology , Breast Neoplasms/epidemiology , Population Surveillance/methods , Adult , Aged , Asian People/statistics & numerical data , Autoimmune Diseases/ethnology , Breast Neoplasms/ethnology , Cohort Studies , Comorbidity , Databases, Factual/statistics & numerical data , Female , Humans , Incidence , Middle Aged , National Health Programs/statistics & numerical data , Risk Factors , Taiwan/epidemiologyABSTRACT
Objective Limbic encephalitis (LE) is an inflammatory condition of the limbic system that has an acute or subacute onset. Several types of antibodies are related to the onset of LE, including anti-N-methyl D-aspartate receptor (NMDAR) antibodies and voltage-gated potassium channel (VGKC)-complex antibodies. However, the characteristics and prevalence of LE remain unclear, especially in Asian cohorts, due to the rarity. We aimed to survey their characteristics. Materials and Methods Data of 30 cases clinically defined as "definite autoimmune LE" (based on the standard criteria) were retrospectively collected. These patients were categorized into four subtypes: NMDAR (+) (n=8), VGKC (+) (n=2), antibodies related to paraneoplastic syndrome (n=2), and an antibody-negative group (uncategorized) (n=18). Results LE is rare in Japan, and affected only 30 of 16,759 hospital patients (0.2%) over a ten-year period. The NMDAR (+) group showed distinctive symptoms, while the other three groups had similar indications. Brain MRI indicated significant medial temporal lobe atrophy at one year follow up after discharge. The prevalence of cognitive dysfunction as a complication was 64% (9/14). First-line immunotherapy resulted in a good outcome. A drastic improvement was seen from 4.0±1.1 to 1.1+ on the modified Rankin Scale. A good treatment outcome was observed in all groups (NMDAR, VGKC, and uncategorized), suggesting the importance of an early clinical diagnosis and the early initiation of treatment. Furthermore, we reviewed 26 cases that were clinically diagnosed as definitive autoimmune LE in previous case reports. Conclusion Our findings show that the establishment of a clinical diagnosis based on the clinical criteria of definitive autoimmune LE is important for the initiation of immunotherapy.
Subject(s)
Autoantibodies/metabolism , Autoimmune Diseases/immunology , Limbic Encephalitis/immunology , Receptors, N-Methyl-D-Aspartate/immunology , Adult , Age of Onset , Atrophy/immunology , Autoimmune Diseases/ethnology , Autoimmune Diseases/therapy , Child, Preschool , Cognitive Dysfunction/immunology , Female , Humans , Immunotherapy/statistics & numerical data , Japan/ethnology , Limbic Encephalitis/ethnology , Limbic Encephalitis/therapy , Magnetic Resonance Imaging , Male , Middle Aged , Paraneoplastic Syndromes/ethnology , Paraneoplastic Syndromes/immunology , Potassium Channels, Voltage-Gated/immunology , Retrospective Studies , Temporal Lobe/immunology , Treatment Outcome , Young AdultABSTRACT
OBJECTIVE: To define the clinical phenotype of patients with myositis with anti-U1-ribonucleoprotein (RNP) autoantibodies. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up in patients with anti-U1-RNP-positive myositis were compared to those with dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), and the antisynthetase syndrome (AS). RESULTS: Twenty anti-U1-RNP-positive patients, 178 patients with DM, 135 patients with IMNM, and 132 patients with AS were included. Anti-U1-RNP-positive patients were younger (â¼37 years) and more likely to be black (60%) than patients with AS, DM, or IMNM. Muscle weakness was a presenting feature in 15% of anti-U1-RNP-positive patients; 80% eventually developed weakness. Four of 7 anti-U1-RNP-positive patients had necrotizing muscle biopsies. Arthritis occurred in 60% of anti-U1-RNP-positive patients; this was increased compared to DM (18%) or IMNM (6%) (all p < 0.01). DM-specific skin features developed in 60% of anti-U1-RNP-positive patients. Interstitial lung disease (ILD) occurred in 45% of anti-U1-RNP-positive patients; fewer patients with DM (13%) and IMNM (6%) and more patients with AS (80%) developed ILD (all p < 0.01). Glomerulonephritis and pericarditis occurred in 25% and 40% of anti-U1-RNP-positive patients, respectively, but rarely in the other groups; these features occurred only in those with coexisting anti-Ro52 autoantibodies. No anti-U1-RNP patient had cancer-associated myositis or died during the study period. CONCLUSIONS: Patients with anti-U1-RNP myositis typically present with proximal weakness and necrotizing muscle biopsies. Arthritis, dermatitis, and ILD are the most common extramuscular clinical features. Pericarditis and glomerulonephritis are uniquely found in patients with anti-U1-RNP-positive myositis.
Subject(s)
Arthritis/physiopathology , Autoimmune Diseases/physiopathology , Glomerulonephritis/physiopathology , Muscle Weakness/physiopathology , Myositis/physiopathology , Pericarditis/physiopathology , Adult , Black or African American , Age of Onset , Aged , Arthritis/etiology , Autoantibodies/immunology , Autoimmune Diseases/complications , Autoimmune Diseases/ethnology , Case-Control Studies , Cohort Studies , Dermatomyositis/ethnology , Dermatomyositis/physiopathology , Female , Glomerulonephritis/etiology , Humans , Longitudinal Studies , Male , Middle Aged , Muscle Weakness/etiology , Muscle, Skeletal/pathology , Myositis/complications , Myositis/ethnology , Myositis/immunology , Necrosis , Pericarditis/etiology , Ribonucleoprotein, U1 Small Nuclear/immunology , White People , Young AdultABSTRACT
Insulin autoimmune syndrome (IAS, Hirata's disease) is a rare hypoglycemic disorder characterized by spontaneous hypoglycemia associated with extremely high circulating insulin levels and positive anti-insulin antibody results. Thus far, most cases have been reported in Asian countries, notably Japan, with few cases reported in western countries. As a possible cause, it is associated with the use of drugs containing sulfhydryl radicals, such as captopril. This report refers to a 63-year-old female Brazilian patient with a history of postprandial hypoglycemia. After extensive investigation and exclusion of other causes, her hyperinsulinemic hypoglycemia was considered to have likely been induced by captopril. Most cases of IAS are self-limiting. However, dietary management, corticosteroids, plasmapheresis, and rituximab have already been used to treat patients with IAS. In our case, after discontinuation of captopril, an initial decrease in insulin autoantibody levels was observed followed by improvement in episodes of hypoglycemia. Although it is a rare disease, IAS should be considered in the differential diagnosis of endogenous hyperinsulinemic hypoglycemia. Patients with suspected IAS must be screened for autoimmunity-related drugs for insulin. Initial clinical suspicion of IAS can avoid unnecessary costs associated with imaging examinations and/or invasive surgical procedures.