LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 343

Search options

  1. Article ; Online: Making Lemonade: Putting the Wisdom of the Genome to Work in Atopic Dermatitis.

    Zhang, Zhaolin / Elder, James T

    The Journal of investigative dermatology

    2021  Volume 141, Issue 11, Page(s) 2561–2564

    Abstract: Getting from a GWAS hit to an actionable gene remains a challenge in complex disease genetics. In a new article of the Journal of Investigative Dermatology, Sobczyk et al. (2021) use a wide variety of genomic data to generate a prioritization algorithm ... ...

    Abstract Getting from a GWAS hit to an actionable gene remains a challenge in complex disease genetics. In a new article of the Journal of Investigative Dermatology, Sobczyk et al. (2021) use a wide variety of genomic data to generate a prioritization algorithm to tackle this problem in atopic dermatitis, calling on the wisdom of the genome to generate promising results.
    MeSH term(s) Dermatitis, Atopic/genetics ; Eczema ; Genome-Wide Association Study ; Humans
    Language English
    Publishing date 2021-10-31
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2021.05.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: Expanded Genome-Wide Association Study Meta-Analysis of Psoriasis Expands the Catalog of Common Psoriasis-Associated Variants.

    Elder, James T

    The journal of investigative dermatology. Symposium proceedings

    2018  Volume 19, Issue 2, Page(s) S77–S78

    Abstract: Psoriasis is a complex immune-mediated disease of skin and joints with a prevalence of about 2%. Previous genetic association studies have identified more than 60 psoriasis susceptibility loci, 47 of which were identified in Caucasians. To further ... ...

    Abstract Psoriasis is a complex immune-mediated disease of skin and joints with a prevalence of about 2%. Previous genetic association studies have identified more than 60 psoriasis susceptibility loci, 47 of which were identified in Caucasians. To further understand the genetic architecture of this disease, we conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts (seven GWAS and one Immunochip dataset), with a combined effective sample size of more than 39,000 individuals. Approximately half (n = 22) of the 47 European-origin loci were identified in cohorts containing a large proportion (≥50%) of samples genotyped using the Immunochip (Bowes et al., 2015; Stuart et al., 2015; Tsoi et al., 2012a, 2015), a platform that focuses on genetic variants from promising signals identified in previous association studies of autoimmune diseases (Stuart et al., 2015). However, restricting analysis to markers genotyped (∼110,000) (Tsoi et al., 2012b) or well-imputed (∼700,000) (Tsoi et al., 2015) on the Immunochip limits exploration of the full genome for susceptibility loci.
    Language English
    Publishing date 2018-11-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1338142-8
    ISSN 1529-1774 ; 1087-0024
    ISSN (online) 1529-1774
    ISSN 1087-0024
    DOI 10.1016/j.jisp.2018.09.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: The Quest for Psoriasis Autoantigens: Genetics Meets Immunology in the Melanocyte.

    Elder, James T

    The Journal of investigative dermatology

    2017  Volume 137, Issue 10, Page(s) 2042–2045

    MeSH term(s) Autoantigens/immunology ; Autoimmunity/immunology ; HLA-C Antigens/immunology ; Humans ; Melanocytes/immunology ; Psoriasis/immunology
    Chemical Substances Autoantigens ; HLA-C Antigens
    Language English
    Publishing date 2017-08-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Comment
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2017.08.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article ; Online: Meeting Report: 68

    Gudjonsson, Johann E / Elder, James T

    The Journal of investigative dermatology

    2020  Volume 140, Issue 11, Page(s) 2105–2110

    Abstract: ... The ... ...

    Abstract The 68
    MeSH term(s) Animals ; Cartoons as Topic ; Chromatin/chemistry ; Genome-Wide Association Study ; Genomics ; Humans ; Quantitative Trait Loci ; Skin Diseases/etiology ; Skin Diseases/genetics ; Skin Diseases/immunology ; Skin Physiological Phenomena ; Transcriptome
    Chemical Substances Chromatin
    Language English
    Publishing date 2020-06-27
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80136-7
    ISSN 1523-1747 ; 0022-202X
    ISSN (online) 1523-1747
    ISSN 0022-202X
    DOI 10.1016/j.jid.2020.06.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.

    Patrick, Matthew T / Bardhi, Redina / Zhou, Wei / Elder, James T / Gudjonsson, Johann E / Tsoi, Lam C

    Genome medicine

    2022  Volume 14, Issue 1, Page(s) 85

    Abstract: Background: Rare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mapping and limited statistical power. ...

    Abstract Background: Rare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mapping and limited statistical power. Population biobanks, such as the UK Biobank, recruit many individuals who can be affected by rare diseases; however, investigation into their utility for rare disease research remains limited. We hypothesized the UK Biobank can be used as a unique population assay for rare diseases in the general population.
    Methods: We constructed a consensus mapping between ICD-10 codes and ORPHA codes for rare diseases, then identified individuals with each rare condition in the UK Biobank, and investigated their age at recruitment, sex bias, and comorbidity distributions. Using exome sequencing data from 167,246 individuals of European ancestry, we performed genetic association controlling for case/control imbalance (SAIGE) to identify potential rare pathogenic variants for each disease.
    Results: Using our mapping approach, we identified and characterized 420 rare diseases affecting 23,575 individuals in the UK Biobank. Significant genetic associations included JAK2 V617F for immune thrombocytopenic purpura (p = 1.24 × 10
    Conclusions: Enhanced disease mapping and increased power from population biobanks can elucidate the demographics and genetic associations for rare diseases.
    MeSH term(s) Biological Specimen Banks ; Genome-Wide Association Study ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Rare Diseases/epidemiology ; Rare Diseases/genetics ; United Kingdom
    Language English
    Publishing date 2022-08-09
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-022-01094-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: What can the genetics of psoriasis teach us about alopecia areata?

    Elder, James T

    The journal of investigative dermatology. Symposium proceedings

    2013  Volume 16, Issue 1, Page(s) S34–6

    Abstract: Previous genetic epidemiological studies of psoriasis and alopecia areata demonstrated strong heritability in first-degree relatives and in twins. In recent years, these two conditions have emerged as two skin diseases that are starting to yield their ... ...

    Abstract Previous genetic epidemiological studies of psoriasis and alopecia areata demonstrated strong heritability in first-degree relatives and in twins. In recent years, these two conditions have emerged as two skin diseases that are starting to yield their secrets through genome-wide association studies. Both diseases manifest prominent human leukocyte antigen (HLA) associations, psoriasis primarily with major histocompatibility complex (MHC) Class 1, specifically HLA-Cw6, and alopecia areata primarily with MHC Class II. Despite these differences in HLA associations, both diseases have in common a prominent role for CD8+ lymphocytes. The purpose of this brief review is to present the recent developments in the genetics of psoriasis.
    MeSH term(s) Alopecia Areata/genetics ; Alopecia Areata/immunology ; CD8-Positive T-Lymphocytes ; HLA-C Antigens ; Humans ; Psoriasis/genetics ; Psoriasis/immunology
    Chemical Substances HLA-C Antigens ; HLA-C*06 antigen
    Language English
    Publishing date 2013-12-05
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1338142-8
    ISSN 1529-1774 ; 1087-0024
    ISSN (online) 1529-1774
    ISSN 1087-0024
    DOI 10.1038/jidsymp.2013.10
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Fractures in the ankylosed spine are associated with poor bone quality and lower hounsfield units.

    Goh, Brian C / Pinter, Zachariah W / Wellings, Elizabeth P / Bernatz, James T / Kolz, Joshua M / Sebastian, Arjun S / Elder, Benjamin D / Freedman, Brett A

    Clinical neurology and neurosurgery

    2023  Volume 235, Page(s) 108048

    Abstract: Study design: Retrospective study INTRODUCTION: Patients with ankylosing spinal disorders have a higher risk of fractures, highlighting the need for bone health surveillance. Bone assessment by dual energy x-ray absorptiometry (DXA) is challenging due ... ...

    Abstract Study design: Retrospective study INTRODUCTION: Patients with ankylosing spinal disorders have a higher risk of fractures, highlighting the need for bone health surveillance. Bone assessment by dual energy x-ray absorptiometry (DXA) is challenging due to abnormal bone formation but measurements by quantitative computed tomography (qCT) have demonstrated higher sensitivity and specificity. However, no studies have analyzed bone quality using qCT in the ankylosed spine population to assess three-column fracture characteristics and subsequent outcomes.
    Methods: 106 patients with 115 three-column fractures were identified from 1999 to 2020. Patient demographics, Charlson comorbidity index, and injury severity score were extracted. Bone quality measured in Hounsfield units (HU), fracture characteristics, neurologic injury, and mortality were obtained.
    Results: Most injuries occurred in the thoracic spine (70.4%) following a ground level fall (60.5%). HU adjacent to the fracture (127 HU) was significantly lower than the mobile segments (173 HU) (p < 0.001). Fracture adjacent HU was significantly lower in AS patients compared to DISH (109 vs 150 HU, p = 0.02, respectively) and were lower in fractures that resulted in a non-union or revision surgery (88 vs 137 HU, p = 0.04). Patients with longer fused segments were associated with multilevel and displaced fractures.
    Conclusions: Fracture adjacent HUs within the autofused segments were significantly lower than in the mobile segments, and longer fusion segments were associated with displaced, multilevel fractures. This study reinforces the importance of assessing patients for decreased HUs as well as better understand how the length of fused segments is associated with displaced, multilevel fractures.
    Level of evidence: Level III.
    MeSH term(s) Humans ; Retrospective Studies ; Spine ; Fractures, Bone ; Absorptiometry, Photon ; Tomography, X-Ray Computed/methods ; Spinal Fractures/diagnostic imaging ; Spinal Fractures/epidemiology ; Bone Density ; Lumbar Vertebrae/injuries
    Language English
    Publishing date 2023-11-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2023.108048
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Relationship between genetically proxied vitamin D and psoriasis risk: a Mendelian randomization study.

    Bohmann, Patricia / Stein, Michael J / Konzok, Julian / Tsoi, Lam C / Elder, James T / Leitzmann, Michael F / Baumeister, Sebastian-Edgar / Baurecht, Hansjörg

    Clinical and experimental dermatology

    2023  Volume 48, Issue 6, Page(s) 642–647

    Abstract: Background: Observational research suggests that vitamin D levels affect psoriasis. However, observational studies are prone to potential confounding or reverse causation, which complicates interpreting the data and drawing causal conclusions.: Aim: ... ...

    Abstract Background: Observational research suggests that vitamin D levels affect psoriasis. However, observational studies are prone to potential confounding or reverse causation, which complicates interpreting the data and drawing causal conclusions.
    Aim: To apply Mendelian randomization (MR) methods to comprehensively assess a potential association between vitamin D and psoriasis.
    Methods: Genetic variants strongly associated with 25-hydroxyvitamin D (25OHD) in genome-wide association study (GWAS) data from 417 580 and 79 366 individuals from two independent studies served as instrumental variables (used as the discovery and replication datasets, respectively). As the outcome variable, we used GWAS data of psoriasis (13 229 people in the case group, 21 543 in the control group). We used (i) biologically validated genetic instruments, and (ii) polygenic genetic instruments to assess the relationship between genetically proxied vitamin D and psoriasis. We carried out inverse-variance weighted (IVW) MR analyses for the primary analysis. In sensitivity analyses, we used robust MR approaches.
    Results: MR analyses of both the discovery and replication datasets did not show an effect of 25OHD on psoriasis. Neither the IVW MR analysis of the biologically validated instruments [discovery dataset: odds ratio (OR) 0.99; 95% confidence interval (CI) 0.88-1.12, P = 0.873; replication dataset: OR 0.98, 95% CI 0.66-1.46, P = 0.930] nor that of the polygenic genetic instruments (discovery dataset: OR 1.00, 95% CI 0.81-1.22, P = 0.973; replication dataset: OR 0.94, 95% CI 0.64-1.38, P = 0.737) revealed an impact of 25OHD on psoriasis.
    Conclusion: The present MR study did not support the hypothesis that vitamin D levels, measured by 25OHD, affect psoriasis. This study was conducted on Europeans, so the conclusions may not be applicable to all ethnicities.
    MeSH term(s) Humans ; Risk Factors ; Mendelian Randomization Analysis/methods ; Genome-Wide Association Study ; Vitamin D ; Vitamins ; Psoriasis/genetics ; Polymorphism, Single Nucleotide
    Chemical Substances Vitamin D (1406-16-2) ; Vitamins
    Language English
    Publishing date 2023-03-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 195504-4
    ISSN 1365-2230 ; 0307-6938
    ISSN (online) 1365-2230
    ISSN 0307-6938
    DOI 10.1093/ced/llad095
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: What can psoriasis teach us about the genetic basis of cutaneous T-cell lymphoma?

    Elder, James T

    Clinical lymphoma, myeloma & leukemia

    2010  Volume 10 Suppl 2, Page(s) S70–3

    MeSH term(s) Humans ; Lymphoma, T-Cell, Cutaneous ; Psoriasis ; Skin Neoplasms
    Language English
    Publishing date 2010-08-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2540992-X
    ISSN 2152-2669 ; 2152-2650
    ISSN (online) 2152-2669
    ISSN 2152-2650
    DOI 10.3816/CLML.2010.s.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Shared genetic risk factors and causal association between psoriasis and coronary artery disease.

    Patrick, Matthew T / Li, Qinmengge / Wasikowski, Rachael / Mehta, Nehal / Gudjonsson, Johann E / Elder, James T / Zhou, Xiang / Tsoi, Lam C

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 6565

    Abstract: Psoriasis and coronary artery disease (CAD) are related comorbidities that are well established, but whether a genetic basis underlies this is not well studied. We apply trans-disease meta-analysis to 11,024 psoriasis and 60,801 CAD cases, along with ... ...

    Abstract Psoriasis and coronary artery disease (CAD) are related comorbidities that are well established, but whether a genetic basis underlies this is not well studied. We apply trans-disease meta-analysis to 11,024 psoriasis and 60,801 CAD cases, along with their associated controls, identifying one opposing and three shared genetic loci, which are confirmed through colocalization analysis. Combining results from Bayesian credible interval analysis with independent information from genomic, epigenomic, and spatial chromatin organization, we prioritize genes (including IFIH1 and IL23A) that have implications for common molecular mechanisms involved in psoriasis and CAD inflammatory signaling. Chronic systemic inflammation has been associated with CAD and myocardial infarction, and Mendelian randomization analysis finds that CAD as an exposure can have a significant causal effect on psoriasis (OR = 1.11; p = 3×10
    MeSH term(s) Humans ; Coronary Artery Disease/epidemiology ; Coronary Artery Disease/genetics ; Genome-Wide Association Study ; Polymorphism, Single Nucleotide ; Bayes Theorem ; Risk Factors ; Mendelian Randomization Analysis ; Psoriasis/complications ; Psoriasis/epidemiology ; Psoriasis/genetics ; Inflammation/complications ; Inflammation/genetics ; Genetic Predisposition to Disease
    Language English
    Publishing date 2022-11-02
    Publishing country England
    Document type Meta-Analysis ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-022-34323-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top