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Immunogenetics

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https://www.readbyqxmd.com/read/28067621/cohort-profile-the-finnish-genetics-of-pre-eclampsia-consortium-finnpec
#1
Tiina Jääskeläinen, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Hannele Laivuori
PURPOSE: The Finnish Genetics of Pre-eclampsia Consortium (FINNPEC) Study was established to set up a nationwide clinical and DNA database on women with and without pre-eclampsia (PE), including their partners and infants, in order to identify genetic risk factors for PE. PARTICIPANTS: FINNPEC is a cross-sectional case-control cohort collected from 5 university hospitals in Finland during 2008-2011. A total of 1450 patients with PE and 1065 pregnant control women without PE (aged 18-47 years) were recruited...
November 10, 2016: BMJ Open
https://www.readbyqxmd.com/read/28067566/basic-concepts-in-kidney-transplant-immunology
#2
Roberta Callus, Jesmar Buttigieg, Andrei Agius Anastasi, Ahmed Halawa
Advances in the field of immunohistocompatibility and immunogenetics have been crucial for improvements in kidney transplant outcomes. This review provides a practical outline of these important breakthroughs for the general physician, at a time when demand for kidney transplants is increasing.
January 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28043521/interleukin-10-gene-polymorphism-is-associated-with-multi-drug-resistant-tuberculosis-during-the-intensive-phase-of-standard-chemotherapy
#3
Butov Dmytro, Kuzhko Mykhailo, Butova Tetyana Kuzhko
OBJECTIVE/BACKGROUND: To study whether interleukin (IL)-10 gene polymorphism is associated with multi-drug resistant tuberculosis (MDR TB) during the intensive phase of standard chemotherapy. METHODS: The study comprised 170 individuals in Kharkiv region of Ukraine including 74 patients with pulmonary MDR TB (Group 1), 66 patients without MDR TB (Group 2), and 30 healthy donors (Group 3). Serum level of IL-10 was evaluated by enzyme-linked immunosorbent assay (pg/L)...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28036301/itpr3-gene-haplotype-is-associated-with-cervical-squamous-cell-carcinoma-risk-in-taiwanese-women
#4
Yuh-Cheng Yang, Tzu-Yang Chang, Tze-Chien Chen, Wen-Shan Lin, Shih-Chuan Chang, Yann-Jinn Lee
Host immunogenetic background plays an important role in human papillomavirus (HPV) infection and cervical cancer development. Inositol 1,4,5-triphosphate receptor type 3 (ITPR3) is essential for both immune activation and cancer pathogenesis. We aim to investigate if ITPR3 genetic polymorphisms are associated with the risk of cervical cancer in Taiwanese women. ITPR3 rs3748079 A/G and rs2229634 C/T polymorphisms were genotyped in a hospital-based study of 462 women with cervical squamous cell carcinoma (CSCC) and 921 age-matched healthy control women...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28005582/analysis-of-immunogenetic-factors-in-idiosyncratic-drug-induced-liver-injury-in-the-paediatric-population
#5
Esther Ocete-Hita, Ma José Salmerón-Fernández, Emilia Urrutia-Maldonado, Paloma Muñoz de Rueda, María Salmerón-Ruiz, Ma Carmen Martinez-Padilla, Angela Ruiz-Extremera
OBJECTIVE: Idiosyncratic drug-induced liver injury (DILI) is a multifactorial complex disease, in which the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive processes which limit the extent of damage, can determine susceptibility and make individuals unique in their development of hepatotoxicity. The aim of this study is to analyse the genetic factors (HLA, cytokine polymorphisms and KIR genotype) of children who experience an episode of drug-induced liver injury...
December 22, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27958613/opioid-receptors-in-psoriatic-skin-relationship-with-itch
#6
Piotr Kupczyk, Adam Reich, Marcin Hołysz, Mariusz Gajda, Edyta Wysokińska, Anna Kobuszewska, Dmitry Nevozhay, Beata Nowakowska, Leon Strzadała, Paweł Jagodziński, Jacek C Szepietowski
Psoriasis is an inflammatory immunogenetic skin disease, often accompanied by itch. Opioid receptors are known regulators of itch sensation in the central nervous system. In the brain, μ-opioid receptors may potentiate itch, while activation of κ-opioid receptors may reduce or even alleviate itch; however, the role of opioid receptors in itch perception in the skin is poorly understood. To further elucidate the role of opioid receptors in the neurobiology of psoriatic itch, punch biopsies of non-lesional and lesional skin of patients with psoriasis and healthy controls were studied...
December 13, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27916969/immunogenetic-markers-definition-in-latvian-patients-with-lyme-borreliosis-and-lyme-neuroborreliosis
#7
Lilija Kovalchuka, Svetlana Cvetkova, Julija Trofimova, Jelena Eglite, Sandra Gintere, Irina Lucenko, Barbara Oczko-Grzesik, Ludmila Viksna, Angelika Krumina
The aim of this study was to determine the human leukocyte antigen (HLA)-DRB1 alleles in two groups of patients in Latvia: patients with Lyme borreliosis and patients with Lyme neuroborreliosis. The study included 216 patients with Lyme borreliosis, 29 patients with Lyme neuroborreliosis and 282 control persons. All surveyed persons were residents of Latvia. The HLA-DR genotyping was performed by polymerase chain reaction- sequence specific primer (PCR-SSP). The predisposition to the Lyme borreliosis is associated with the HLA-DRB1*07, -DRB1*17(03), -DRB1*04, -DRB1*15(02) alleles...
December 1, 2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27904140/restrictions-in-the-t-cell-repertoire-of-chronic-lymphocytic-leukemia-high-throughput-immunoprofiling-supports-selection-by-shared-antigenic-elements
#8
A Vardi, E Vlachonikola, M Karypidou, E Stalika, V Bikos, K Gemenetzi, C Maramis, A Siorenta, A Anagnostopoulos, S Pospisilova, N Maglaveras, I Chouvarda, K Stamatopoulos, A Hadzidimitriou
Immunoglobulin (IG) gene repertoire restrictions strongly support antigen selection in the pathogenesis of chronic lymphocytic leukemia (CLL). Given the emerging multifarious interactions between CLL and bystander T cells, we sought to determine whether antigen(s) are also selecting T cells in CLL. We performed a large-scale, next-generation sequencing (NGS) study of the T-cell repertoire, focusing on major stereotyped subsets representing CLL subgroups with undisputed antigenic drive, but also included patients carrying non-subset IG rearrangements to seek for T-cell immunogenetic signatures ubiquitous in CLL...
January 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27888301/the-genome-sequence-and-insights-into-the-immunogenetics-of-the-bananaquit-passeriformes-coereba-flaveola
#9
Jennifer Antonides, Robert Ricklefs, J Andrew DeWoody
Avian genomics, especially of non-model species, is in its infancy relative to mammalian genomics. Here, we describe the sequencing, assembly, and annotation of a new avian genome, that of the bananaquit Coereba flaveola (Passeriformes: Thraupidae). We produced ∼30-fold coverage of the genome with an assembly size of ca. 1.2 Gb, including approximately 16,500 annotated genes. Passerine birds, such as the bananaquit, are commonly infected by avian malarial parasites (Haemosporida), which presumably drive adaptive evolution of immunogenetic loci within the host genome...
November 25, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27886201/cryptococcal-meningitis-epidemiology-immunology-diagnosis-and-therapy
#10
REVIEW
Peter R Williamson, Joseph N Jarvis, Anil A Panackal, Matthew C Fisher, Síle F Molloy, Angela Loyse, Thomas S Harrison
HIV-associated cryptococcal meningitis is by far the most common cause of adult meningitis in many areas of the world that have high HIV seroprevalence. In most areas in Sub-Saharan Africa, the incidence of cryptococcal meningitis is not decreasing despite availability of antiretroviral therapy, because of issues of adherence and retention in HIV care. In addition, cryptococcal meningitis in HIV-seronegative individuals is a substantial problem: the risk of cryptococcal infection is increased in transplant recipients and other individuals with defects in cell-mediated immunity, and cryptococcosis is also reported in the apparently immunocompetent...
January 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27877205/spatial-patterns-of-immunogenetic-and-neutral-variation-underscore-the-conservation-value-of-small-isolated-american-badger-populations
#11
Yessica Rico, Danielle M Ethier, Christina M Davy, Josh Sayers, Richard D Weir, Bradley J Swanson, Joseph J Nocera, Christopher J Kyle
Small and isolated populations often exhibit low genetic diversity due to drift and inbreeding, but may simultaneously harbour adaptive variation. We investigate spatial distributions of immunogenetic variation in American badger subspecies (Taxidea taxus), as a proxy for evaluating their evolutionary potential across the northern extent of the species' range. We compared genetic structure of 20 microsatellites and the major histocompatibility complex (MHC DRB exon 2) to evaluate whether small, isolated populations show low adaptive polymorphism relative to large and well-connected populations...
December 2016: Evolutionary Applications
https://www.readbyqxmd.com/read/27872728/what-unrelated-hematopoietic-stem-cell-transplantation-in-thalassemia-taught-us-about-transplant-immunogenetics
#12
REVIEW
Giorgio La Nasa, Adriana Vacca, Roberto Littera, Eugenia Piras, Sandro Orru, Marianna Greco, Carlo Carcassi, Giovanni Caocci
Although the past few decades have shown an improvement in the survival and complication-free survival rates in patients with beta-thalassemia major and gene therapy is already at an advanced stage of experimentation, hematopoietic stem cell transplantation (HSCT) continues to be the only effective and realistic approach to the cure of this chronic non-malignant disease. Historically, human leukocyte antigen (HLA)-matched siblings have been the preferred source of donor cells owing to superior outcomes compared with HSCT from other sources...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27863539/single-nucleotide-polymorphisms-in-major-histocompatibility-class-ii-haplotypes-are-associated-with-potential-resistance-to-inflammatory-bowel-disease-in-german-shepherd-dogs
#13
Atiyeh Peiravan, Karin Allenspach, Alisdair M Boag, Francesca Soutter, Angela Holder, Brian Catchpole, Lorna J Kennedy, Dirk Werling, Fabio Procoli
German shepherd dogs (GSD) in the UK are at increased risk of developing the Inflammatory Bowel Disaese (IBD). IBD is believed to be a multifactorial immune mediated disease affecting genetically predisposed dogs. The aim of the current study was to investigate whether susceptibility to IBD in GSD is associated with the major histocompatibility complex (MHC) class II locus (Dog Leukocyte Antigen, DLA). Sequence-based genotyping of the three polymorphic DLA genes DLA-DRB1, -DQA1 and -DQB1 was performed in 56 GSDs affected by IBD and in 50 breed-matched controls without any history of gastrointestinal signs...
December 2016: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/27859681/familial-acquired-thrombotic-thrombocytopenic-purpura-in-siblings-no-immunogenetic-link-with-associated-human-leucocyte-antigens
#14
Philipp Gödel, Julia Fischer, Christoph Scheid, Birgit S Gathof, Jürgen Wolf, Jan Rybniker
Acquired immunoglobulin G (IgG)-mediated thrombotic thrombocytopenic purpura (TTP) has not yet been described in non-twin siblings. We report two cases of acquired TTP in Caucasian sisters with inactive ADAMTS13 metalloprotease due to ADAMTS13 autoantibodies suggesting a role of genetic determinants in this life-threatening disease. However, human leucocyte antigen (HLA) class II types presumably associated with acquired TTP were not identified in the patients, indicating that HLA class II typing may not be useful in acquired TTP risk assessment of family members...
November 18, 2016: European Journal of Haematology
https://www.readbyqxmd.com/read/27853144/hla-class-i-and-ii-alleles-heterozygosity-and-hla-kir-interactions-are-associated-with-rates-of-genital-hsv-shedding-and-lesions
#15
A Magaret, L Dong, M John, S A Mallal, I James, T Warren, S Gaudieri, D M Koelle, A Wald
Variation at HLA and KIR loci is associated with the severity of viral infections. To assess associations of genital HSV-2 infection with human HLA and KIR genetic loci, we measured the frequencies of genital herpes simplex virus (HSV) DNA detection and of genital lesions in HSV-2 seropositive persons. We followed 267 HSV-2 seropositive persons who collected daily genital swabs and recorded lesions for ⩾30 days. All persons were laboratory-documented as HIV-seronegative, and all were Caucasian by self-report...
December 2016: Genes and Immunity
https://www.readbyqxmd.com/read/27847547/systemic-therapies-for-late-stage-melanoma
#16
REVIEW
Peter W Hashim, Philip Friedlander, Gary Goldenberg
Late-stage melanoma is associated with high morbidity and mortality. Classic treatment methods relied on cytotoxic chemotherapy, which is limited by low response rates and significant adverse effects. Recent advances in immunogenetics have led to the advent of important new systemictreatments.Thisarticle reviews the latest therapy options for advanced melanoma.
October 2016: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/27832379/immunogenetics-of-igg4-related-aip
#17
Masao Ota, Takeji Umemura, Shigeyuki Kawa
Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. AIP has the features of a complex disease that is caused by multifactorial genes. However, the genetic factors underlying AIP have not been elucidated conclusively. Association studies by the candidate-gene approach and genome-wide association studies (GWAS) have revealed several susceptibility genes for AIP, including HLA DRB1*04:05-DQB1*04:01, FCRL3, CTLA4, and KCNA3, albeit in small-scale analyses...
November 11, 2016: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/27829026/cross-species-rhesus-cytomegalovirus-infection-of-cynomolgus-macaques
#18
Benjamin J Burwitz, Daniel Malouli, Benjamin N Bimber, Jason S Reed, Abigail B Ventura, Meaghan H Hancock, Luke S Uebelhoer, Amruta Bhusari, Katherine B Hammond, Renee G Espinosa Trethewy, Alex Klug, Alfred W Legasse, Michael K Axthelm, Jay A Nelson, Byung S Park, Daniel N Streblow, Scott G Hansen, Louis J Picker, Klaus Früh, Jonah B Sacha
Cytomegaloviruses (CMV) are highly species-specific due to millennia of co-evolution and adaptation to their host, with no successful experimental cross-species infection in primates reported to date. Accordingly, full genome phylogenetic analysis of multiple new CMV field isolates derived from two closely related nonhuman primate species, Indian-origin rhesus macaques (RM) and Mauritian-origin cynomolgus macaques (MCM), revealed distinct and tight lineage clustering according to the species of origin, with MCM CMV isolates mirroring the limited genetic diversity of their primate host that underwent a population bottleneck 400 years ago...
November 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27827442/lack-of-diversity-at-innate-immunity-toll-like-receptor-genes-in-the-critically-endangered-white-winged-flufftail-sarothrura-ayresi
#19
Desire L Dalton, Elaine Vermaak, Hanneline A Smit-Robinson, Antoinette Kotze
The White-winged Flufftail (Sarothrura ayresi) population is listed as globally Critically Endangered. White-winged Flufftails are only known to occur, with any regularity, in the high-altitude wetlands of South Africa and Ethiopia. Threats to the species include the limited number of suitable breeding sites in Ethiopia and severe habitat degradation and loss both in Ethiopia and South Africa. Toll-like receptors (TLRs) are increasingly being studied in a variety of taxa as a broader approach to determine functional genetic diversity...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27814654/a-reciprocal-hla-disease-association-in-rheumatoid-arthritis-and-pemphigus-vulgaris
#20
Vincent Van Drongelen, Joseph Holoshitz
  Human leukocyte antigens (HLA) have been extensively studied as being antigen presenting receptors, but many aspects of their function remain elusive, especially their association with various autoimmune diseases. Here we discuss an illustrative case of the reciprocal relationship between certain HLA-DRB1 alleles and two diseases, rheumatoid arthritis (RA) and pemphigus vulgaris (PV). RA is strongly associated with HLA-DRB1 alleles that encode a five amino acid sequence motif in the 70-74 region of the DR beta chain, called the shared epitope (SE), while PV is associated with the HLA-DRB1*04:02 allele that encodes a different sequence motif in the same region...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
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