Abstract:
BACKGROUND:The R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms have been confirmed to encode different PTPN22 (LYP) proteins, but detailed information regarding expression of these is lacking, especially with regard to autoimmune diseases. METHODS:We have investigated the mRNA expression of known PTPN22 splice forms with TaqMan real-time PCR in relation to ZNF592 as an endogenous reference in peripheral blood cells from three independent cohorts with RA patients (n = 139) and controls (n = 111) of Caucasian origin. Polymorphisms in the PTPN22 locus (25 SNPs) and phenotypic data (gender, disease activity, ACPA and RF status) were used for analysis. Additionally, we addressed possible effects of methotrexate treatment on PTPN22 expression. RESULTS:We found consistent differences in the expression of the PTPN22 splice forms in unstimulated peripheral blood mononuclear cells between RA patients and normal controls. This difference was more pronounced when comparing the ratio of splice forms and was not affected by methotrexate treatment. CONCLUSIONS:Our data show that RA patients and healthy controls have a shift in balance of expression of splice forms derived from the PTPN22 gene. This balance seems not to be caused by treatment and may be of importance during immune response due to great structural differences in the encoded PTPN22 proteins.
journal_name
Genome Medjournal_title
Genome medicineauthors
Ronninger M,Guo Y,Shchetynsky K,Hill A,Khademi M,Olsson T,Reddy PS,Seddighzadeh M,Clark JD,Lin LL,O'Toole M,Padyukov Ldoi
10.1186/gm301subject
Has Abstractpub_date
2012-01-20 00:00:00pages
2issue
1issn
1756-994Xpii
gm301journal_volume
4pub_type
杂志文章相关文献
Genome Medicine文献大全abstract::Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be suff...
journal_title:Genome medicine
pub_type: 社论
doi:10.1186/gm48
更新日期:2009-05-08 00:00:00
abstract:BACKGROUND:Phenotypic changes during cancer progression are associated with alterations in gene expression, which can be exploited to build molecular signatures for tumor stage identification and prognosis. However, it is not yet known whether the relative abundance of transcript isoforms may be informative for clinica...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0339-3
更新日期:2016-08-17 00:00:00
abstract:BACKGROUND:For circadian medicine to influence health, such as when to take a drug or undergo a procedure, a biomarker of molecular clock phase is required--one that is easily measured and generalizable across a broad population. It is not clear that any circadian biomarker yet satisfies these criteria. METHODS:We ana...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00768-9
更新日期:2020-08-21 00:00:00
abstract::The identification of somatic mosaicism in the brain lends a new perspective to our understanding of the role of gene and environment interactions in psychiatric disease risk. Somatic mutations, such as retrotransposon insertions, that are precipitated by modern environmental factors may alter neuronal function and ne...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0317-9
更新日期:2016-05-23 00:00:00
abstract::A report on the 62nd Annual Meeting of the American Society of Human Genetics, San Francisco, California, USA, 6-10 November 2012. ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm398
更新日期:2012-12-19 00:00:00
abstract:BACKGROUND:Establishing the cancer type and site of origin is important in determining the most appropriate course of treatment for cancer patients. Patients with cancer of unknown primary, where the site of origin cannot be established from an examination of the metastatic cancer cells, typically have poor survival. H...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0493-2
更新日期:2017-11-28 00:00:00
abstract::Systems biology has matured considerably as a discipline over the last decade, yet some of the key challenges separating current research efforts in systems biology and clinically useful results are only now becoming apparent. As these gaps are better defined, the new discipline of systems medicine is emerging as a tr...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm88
更新日期:2009-09-29 00:00:00
abstract::To help overcome the bottlenecks that limit the development of diagnostic and therapeutic products, academic and industrial researchers, patient organizations and charities, and regulatory and funding institutions should redefine the basis for sharing the knowledge collected in large-scale clinical and experimental st...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm29
更新日期:2009-03-04 00:00:00
abstract:BACKGROUND:Hepatocellular carcinoma (HCC) is the one of the most common cancers and lethal diseases in the world. DNA methylation alteration is frequently observed in HCC and may play important roles in carcinogenesis and diagnosis. METHODS:Using the TCGA HCC dataset, we classified HCC patients into different methylat...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-018-0548-z
更新日期:2018-05-30 00:00:00
abstract::Recent studies have demonstrated that network approaches are highly appropriate tools for understanding the extreme complexity of the aging process. Moreover, the generality of the network concept helps to define and study the aging of technological and social networks and ecosystems, which may generate novel concepts...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm90
更新日期:2009-09-28 00:00:00
abstract:BACKGROUND:Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are linked to patient DNA, offering unprecedented opportunities to query relationships between genetic ri...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00820-8
更新日期:2021-01-13 00:00:00
abstract::The pioneering work of Jean Dausset on the HLA system established several principles that were later reflected in the Human Genome Project and contributed to the foundations of predictive, preventive, personalized and participatory (P4) medicine. To effectively develop systems medicine, we should take advantage of the...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm178
更新日期:2010-08-26 00:00:00
abstract:BACKGROUND:Mycobacterium tuberculosis resistance to anti-tuberculosis drugs is a major threat to global public health. Whole genome sequencing (WGS) is rapidly gaining traction as a diagnostic tool for clinical tuberculosis settings. To support this informatically, previous work led to the development of the widely use...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0650-x
更新日期:2019-06-24 00:00:00
abstract:BACKGROUND:Efforts to improve research outcomes have resulted in genomic researchers being confronted with complex and seemingly contradictory instructions about how to perform their tasks. Over the past decade, there has been increasing pressure on university researchers to commercialize their work. Concurrently, they...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm316
更新日期:2012-02-27 00:00:00
abstract::Tumor heterogeneity is of growing importance in the treatment of cancers. Mutational hot spots are prime locations for determining number and proportions of low variant allele frequency (VAF) tumor subclones by next generation sequencing. Low VAF detection is complicated by poor mapping efficiency in regions with high...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-015-0147-1
更新日期:2015-03-12 00:00:00
abstract:BACKGROUND:Enterococcus faecium is a commensal of the gastrointestinal tract of animals and humans but also a causative agent of hospital-acquired infections. Resistance against glycopeptides and to vancomycin has motivated the inclusion of E. faecium in the WHO global priority list. Vancomycin resistance can be confer...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00825-3
更新日期:2021-01-20 00:00:00
abstract::During COVID-19, diagnostic serological tools and vaccines have been developed. To inform control activities in a post-vaccine surveillance setting, we have developed an online "immuno-analytics" resource that combines epitope, sequence, protein and SARS-CoV-2 mutation analysis. SARS-CoV-2 spike and nucleocapsid prote...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-00822-6
更新日期:2021-01-07 00:00:00
abstract:BACKGROUND:Preterm birth confers a high risk of adverse long term health outcomes for survivors, yet the underlying molecular mechanisms are unclear. We hypothesized that effects of preterm birth can be mediated through measurable epigenomic changes throughout development. We therefore used a longitudinal birth cohort ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm500
更新日期:2013-10-18 00:00:00
abstract:BACKGROUND:The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 and its role in mental disorders, we characterized the protein and chromatin interactions of the BRD1...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-016-0308-x
更新日期:2016-05-03 00:00:00
abstract::The magnitude of the detrimental effects following in utero alcohol exposure, including fetal alcohol syndrome and other fetal alcohol spectrum disorders (FASD), is globally underestimated. The effects include irreversible cognitive and behavioral disabilities as a result of abnormal brain development, pre- and postna...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm148
更新日期:2010-04-28 00:00:00
abstract::Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies th...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm171
更新日期:2010-08-05 00:00:00
abstract:BACKGROUND:As public health interventions drive parasite populations to elimination, genetic epidemiology models that incorporate population genomics can be powerful tools for evaluating the effectiveness of continued intervention. However, current genetic epidemiology models may not accurately simulate the population ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0398-0
更新日期:2017-01-24 00:00:00
abstract:BACKGROUND:While clinical factors such as age, grade, stage, and histological subtype provide physicians with information about patient prognosis, genomic data can further improve these predictions. Previous studies have shown that germline variants in known cancer driver genes are predictive of patient outcome, but no...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-020-0718-7
更新日期:2020-02-17 00:00:00
abstract:BACKGROUND:Profiles of DNA methylation of many tissues relevant in human disease have been obtained from microarrays and are publicly available. These can be used to generate maps of chromatin compartmentalization, demarcating open and closed chromatin across the genome. Additionally, large sets of genome-wide transcri...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0443-z
更新日期:2017-06-07 00:00:00
abstract::Cutaneous malignancies, especially malignant melanoma, exhibit great genetic heterogeneity. As a result, some individuals and families have particularly increased risk due to genetic predisposition to the disease. The susceptibility alleles range from rarely occurring, heritable, high-risk variants to ubiquitously occ...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm95
更新日期:2009-10-27 00:00:00
abstract:BACKGROUND:Glioblastoma multiforme, the most common type of primary brain tumor in adults, is driven by cells with neural stem (NS) cell characteristics. Using derivation methods developed for NS cells, it is possible to expand tumorigenic stem cells continuously in vitro. Although these glioblastoma-derived neural ste...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm377
更新日期:2012-10-09 00:00:00
abstract:BACKGROUND:Imiquimod (IMQ) produces a cutaneous phenotype in mice frequently studied as an acute model of human psoriasis. Whether this phenotype depends on strain or sex has never been systematically investigated on a large scale. Such effects, however, could lead to conflicts among studies, while further impacting st...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-017-0415-3
更新日期:2017-03-09 00:00:00
abstract::Chronic infection with hepatitis B virus (HBV) occurs in approximately 6% of the world's population and carriers of the virus are at risk for hepatocellular carcinoma and cirrhosis. Current treatment regimens, which include interferon-alpha and nucleoside/nucleotide analogs, are only partially effective and new treatm...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/gm149
更新日期:2010-04-28 00:00:00
abstract::Infections encountered in the cancer setting may arise from intensive cancer treatments or may result from the cancer itself, leading to risk of infections through immune compromise, disruption of anatomic barriers, and exposure to nosocomial (hospital-acquired) pathogens. Consequently, cancer-related infections are u...
journal_title:Genome medicine
pub_type: 杂志文章,评审
doi:10.1186/s13073-016-0306-z
更新日期:2016-04-18 00:00:00
abstract::Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phas...
journal_title:Genome medicine
pub_type: 杂志文章
doi:10.1186/s13073-019-0677-z
更新日期:2019-10-22 00:00:00