Ena-DATASET-QIMR-05-12-2018-01:04:09:659-116 - samples
Ontology highlight
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PROVIDER: EGAD00001004498 | EGA |
REPOSITORIES: EGA
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Project description:Treatment of anemia in patients with chronic kidney disease (CKD) with recombinant human erythropoietin (rHuEPO) can be disrupted by a severe complication, anti-rHuEPO-induced pure red cell aplasia (PRCA). Specific HLA genotypes may have played a role in the high incidence of PRCA in Thai patients (1.7/1,000 patient years vs. 0.03/10,000 patient years in Caucasians). We conducted a case-control study in 157 CKD patients with anti-rHuEPO-induced PRCA and 56 controls. The HLA typing was determined by sequencing using a highly accurate multiplex single-molecule, real-time, long-read sequencing platform. Four analytical models were deployed: Model 1 (additive: accounts for the number of alleles), Model 2 (dominant: accounts for only the presence or absence of alleles), Model 3 (adjusted additive with rHuEPO types) and Model 4 (adjusted dominant with rHuEPO types). HLA-B*46:01:01:01 and DRB1*09:01:02:01 were found to be independent risk markers for anti-rHuEPO-induced PRCA in all models [OR (95%CI), p-values for B*46:01:01:01: 4.58 (1.55-13.51), 0.006; 4.63 (1.56-13.75), 0.006; 5.72 (1.67-19.67), 0.006; and 5.81 (1.68-20.09), 0.005; for DRB1*09:01:02:01: 3.99 (1.28-12.49), 0.017, 4.50 (1.32-15.40), 0.016, 3.42 (1.09-10.74), 0.035, and 3.75 (1.08-13.07), 0.038, in Models 1-4, respectively. HLA-B*46:01:01:01 and DRB1*09:01:02:01 are susceptible alleles for anti-rHuEPO-induced PRCA. These findings support the role of HLA genotyping in helping to monitor patients receiving rHuEPO treatment.
| S-EPMC10733298 | biostudies-literature
Project description:HLA-A, -C, -B, and -DRB1 genotypes were analyzed in 178 Japanese COVID-19 patients to investigate the association of HLA with severe COVID-19. Analysis of 32 common HLA alleles at four loci revealed a significant association between HLA-DRB1*09:01 and severe COVID-19 (odds ratio [OR], 3.62; 95% CI, 1.57-8.35; p = 0.00251 [permutation p value = 0.0418]) when age, sex, and other common HLA alleles at the DRB1 locus were adjusted. The DRB1*09:01 allele was more significantly associated with risk for severe COVID-19 compared to preexisting medical conditions such as hypertension, diabetes, and cardiovascular diseases. These results indicate a potential role for HLA in predisposition to severe COVID-19.
| S-EPMC8251239 | biostudies-literature
Project description:Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic basis of susceptibility to BP, we performed the first genome-wide association study (GWAS) in Germans. This GWAS was combined with HLA locus targeted sequencing in an additional independent BP cohort. The strongest association with BP in Germans tested in this study was observed in the two HLA loci, HLA-DQA1*05:05 and HLA-DRB1*07:01. Further studies with increased sample sizes and complex studies integrating multiple pathogenic drivers will be conducted.
| S-EPMC8136166 | biostudies-literature
Project description:Patients deserve to be treated in a safe and clean environment with consistent standards of care every time they receive treatment. It is essential that the risk of person-to-person transmission of infections be minimised, yet it is also essential that planetary harm (and therefore public harm) is minimised with respect to resource consumption, air pollution, environmental degradation etc.In 2013, the Department of Health introduced the Health Technical Memorandum (HTM) 01-05 providing dental practices with advice on patient safety when decontaminating reusable instruments in primary care. This paper provides a commentary on HTM 01-05 and similar decontamination guidance. We believe all decontamination documents needs to reflect the so-called 'triple bottom line' - the finance, social cost and impact on the planet.The authors provide an environmental commentary on a number of items mentioned in decontamination documents, including autoclaves (including the use of helix tests), disposable paper towels, undertaking hand hygiene, using a log book, plastic bag use, the use of personal protective equipment, remote decontamination units, single use instruments, single use wipes, disinfection chemicals (for example, sodium hypochlorite) thermal disinfection and wrapping of instruments.It is hoped, in the spirit of the ever-increasing numbers of papers published to highlight how healthcare (and dentistry) could become more sustainable, that these critiques will be taken in the spirit of providing a beginning of further discussion from an environmental perspective.
| S-EPMC9412769 | biostudies-literature
Project description:Description not provided
| EGAD00001004080 | EGA
Project description:Subacute thyroiditis (SAT) is a thyroid inflammatory disease whose pathogenesis is still not completely defined. Previous viral infection is considered to be a triggering factor in genetically predisposed individuals. In about 70% of patients, susceptibility to SAT is associated with the HLA-B*35 allele. The correlation between SAT and other human leukocyte antigens (HLA) has not yet been unequivocally demonstrated and the genetic background is still unknown in about 30% of patients. The purpose of our study was to perform HLA genotyping using a next-generation sequencing method, to find out whether alleles other than HLA-B*35 are correlated with SAT morbidity. HLA-A, -B, -C, -DQB1, -DRB1 were genotyped using a next-generation sequencing method in 1083 subjects, including 60 SAT patients and 1023 healthy controls. Among 60 patients diagnosed with SAT, 81.7% of subjects were identified as having allele HLA-B*35, 23.3% had HLA-B*18:01, 28.3% had HLA-DRB1*01 and 75.5% had HLA-C*04:01. These alleles occurred in the control group at frequencies of 10.2%, 7.2%, 12.9% and 12.5%, respectively. The differences were statistically significant, with p < 0.05. In addition to its previously described relationship with HLA-B*35, genetic susceptibility to SAT was associated with the presence of HLA-B*18:01, DRB1*01 and C*04:01. The alleles HLA-B*18:01 and DRB1*01 were independent SAT risk factors. The assessment of these four alleles allows the confirmation of genetic predisposition in almost all patients with SAT.
| S-EPMC7074389 | biostudies-literature
Project description:BackgroundThe association between HLA-DRB1*15:01 with multiple sclerosis (MS) susceptibility is well established, but the contribution of the tightly associated HLA-DRB5*01:01 allele has not yet been completely ascertained. Similarly, the effects of HLA-DRB1*04:01 alleles and haplotypes, defined at the full-gene resolution level with MS risk remains to be elucidated.ObjectivesTo characterize the molecular architecture of class II HLA-DR15 and HLA-DR4 haplotypes associated with MS.MethodsNext-generation sequencing was used to determine HLA-DQB1, HLA-DQA1, and HLA-DRB1/4/5 alleles in 1403 unrelated European-American patients and 1425 healthy unrelated controls. Effect sizes of HLA alleles and haplotypes on MS risk were measured by odds ratio (OR) with 95% confidence intervals.ResultsHLA-DRB1*15:01:01:01SG (OR = 3.20, p < 2.2E-16), HLA-DRB5*01:01:01 (OR = 2.96, p < 2.2E-16), and HLA-DRB5*01:01:01v1_STR1 (OR = 8.18, p = 4.3E-05) alleles all occurred at significantly higher frequencies in MS patients compared to controls. The most significant predis-posing haplotypes were HLA-DQB1*06:02:01~ HLA-DQA1*01:02:01:01SG~HLA-DRB1*15:01:01:01SG~HLA-DRB5*01:01:01 and HLA-DQB1*06:02:01~HLA-DQA1*01:02:01:01SG~HLA-DRB1*15:01:01:01SG~HLA-DRB5*01:01:01v1_STR1 (OR = 3.19, p < 2.2E-16; OR = 9.30, p = 9.7E-05, respectively). Analyses of the HLA-DRB1*04 cohort in the absence of HLA-DRB1*15:01 haplotypes revealed that the HLA-DQB1*03:01:01:01~HLA-DQA1*03:03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was protective (OR = 0.64, p = 0.028), whereas the HLA-DQB1*03:02:01~HLA-DQA1*03:01:01~HLA-DRB1*04:01:01:01SG~HLA-DRB4*01:03:01:01 haplotype was associated with MS susceptibility (OR = 1.66, p = 4.9E-03).ConclusionHLA-DR15 haplotypes, including genomic variants of HLA-DRB5, and HLA-DR4 haplotypes affect MS risk.
| S-EPMC6365219 | biostudies-literature
Project description:Description not provided
| EGAD00001004385 | EGA
Project description:Background: Only 9% of individuals in the United Kingdom (UK) meet the recommendation for dietary fibre intake. Little is known about chickpea consumption in the UK. Methods: Chickpea intake trends and sociodemographic patterns were analysed using the National Diet and Nutrition Survey Rolling Programme data collected from 2008/09 to 2018/19 among 15,655 individuals ≥1.5 years completing a four-day food diary. Chickpea consumers were identified based on a list of chickpea-containing foods, with the most consumed foods being hummus, boiled chickpeas, chickpea flour, and low/reduced-fat hummus. Micronutrient and food group intakes were compared between chickpea consumers and non-consumers; the Modified Healthy Dietary Score was also assessed, which measures adherence to UK dietary recommendations. Results: Chickpea consumption increased from 6.1% (2008-2012) to 12.3% (2016-2019). Among 1.5-3 years, consumption increased from 5.7% to 13.4%, and among 19-64 years, consumption increased from 7.1% to 14.4%. The percentage of individuals eating chickpeas was higher among individuals with higher incomes and more education. Healthy-weight adults were more likely to consume chickpeas compared to those who were overweight or obese. Compared to both bean and non-bean consumers, chickpea consumers ate significantly more dietary fibre, fruits and vegetables, pulses, nuts, and less red meat and processed meat products. Chickpea consumers also had a higher Modified Healthy Dietary Score. Conclusions: In the UK, chickpea consumption more than doubled from 2008/09 to 2018/19. Chickpea consumers had a higher diet quality than non-consumers.
| S-EPMC10675415 | biostudies-literature
Project description:Autoimmune hepatitis (AIH) is an autoimmune disease caused by disruption of liver immune homeostasis. Genetic studies have revealed the predisposition of AIH with the human leukocyte antigen (HLA) region. Recently, metabolomics integrated with genomics has identified many genetic loci of biomedical interest. However, there is no related report in AIH. In the present study, we found that HLA-DRB1*04:05 was linked to the clinical features and prognosis of AIH in Chinese patients. Furthermore, our patients were divided into DRB1*04:05 positive and DRB1*04:05 negative groups and the metabolic profiling was done by HPLC/MS. We chose inosine, one of the highly altered metabolites, to explore the effect on an acute severe hepatitis murine model. The results showed that inosine treatment attenuated hepatocyte apoptosis, enhanced antioxidant ability and inhibited the activation and glycolysis of CD4+ T cell. We propose that inosine participates in the regulation of AIH through its protective effect on hepatocytes and inhibition of overactivated immune cells, which might provide a potential novel approach in treating acute form of AIH.
| S-EPMC9389112 | biostudies-literature