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HLA twins

Olabola Awosika, Elias Oussedik
Rosacea is a common inflammatory skin disease with a multifaceted pathophysiology, including environmental stressors and neurovascular and immune dysfunction affected by the presence of pathogens. The genetic component of this disorder is not well understood. However, a possible genetic origin in Northern European descendants, family inheritance, twin concordance, and genetic associations with autoimmune disorders attest the genetic predisposition to rosacea. Currently, one single-nucleotide polymorphism has been identified in association with rosacea and is intergenic between HLA-DRA and BTNL2...
April 2018: Dermatologic Clinics
Yoshie Kametani, Takashi Shiina, Ryuji Suzuki, Erika Sasaki, Sonoko Habu
The common marmoset (CM; Callithrix jacchus) is a small New World monkey with a high rate of pregnancy and is maintained in closed colonies as an experimental animal species. Although CMs are used for immunological research, such as studies of autoimmune disease and infectious disease, their immunological characteristics are less defined than those of other nonhuman primates. We and others have analyzed antigen recognition-related molecules, the development of hematopoietic stem cells (HSCs), and the molecules involved in the immune response...
February 8, 2018: Experimental Animals
Abirami Veluchamy, Harry L Hébert, Weihua Meng, Colin N A Palmer, Blair H Smith
Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7-10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP and the estimated heritability in twins is 37%. The aim of this study was to systematically review and summarize the studies in humans that have investigated the influence of genetic factors associated with NP. We conducted a comprehensive literature search and performed meta-analyses of all the potential genetic variants associated with NP...
January 18, 2018: Pain
T Goeury, L E Creary, M A Fernandez-Vina, J-M Tiercy, J M Nunes, A Sanchez-Mazas
A total of 72 unrelated Mandenka individuals from Eastern Senegal, Niokholo region, were typed using Next Generation Sequencing (library preparation with the Holotype HLA X2 and MIA FORA NGS HLA Typing kits, sequencing with Illumina MiSeq, and bio-informatic processing with HLA Twin v1.1.1 (Omixon) and MIA FORA NGS software) and yielded reliable genotypes for 8 HLA loci, namely A, B, C, DRB1, DQA1, DQB1, DPA1 and DPB1.
December 27, 2017: HLA
Mikio Watanabe, Yoichi Takenaka, Chika Honda, Osaka Twin Research Group, Yoshinori Iwatani
<b>Background: </b>Epigenetic factors associated with the development of autoimmune diseases are unclear. Monozygotic twin pairs discordant for positive anti-thyroglobulin autoantibodies (TgAb) are useful to examine the epigenetic factors because of their identical genetic background. <b>Purpose: </b>To clarify the discordant epigenetic differences affecting the development of TgAb. <b>Subjects:</b> We selected subjects from 257 Japanese monozygotic twins, recruited from the registry established by the Center for Twin Research at Osaka University...
November 4, 2017: Thyroid: Official Journal of the American Thyroid Association
Pan Liu, Tomokazu Souma, Andrew Zu-Sern Wei, Xueying Xie, Xunrong Luo, Jing Jin
In organ transplantation, the function and longevity of the graft critically rely on the success of controlling immunological rejection reactivity against human leukocyte antigens (HLA). Histocompatibility guidelines are based on laboratory tests of anti-HLA immunity, which presents either as pre-existing or de novo generated HLA antibodies that constitute a major transplantation barrier. Current tests are built on a single-antigen beads (SAB) platform using a fixed set of ~100 preselected recombinant HLA antigens to probe transplant sera...
September 6, 2017: Journal of Visualized Experiments: JoVE
Kristina Wendel, Çiğdem Akalin Akkök, Stefan Kutzsche
Neonatal alloimmune thrombocytopaenia (NAIT) generally results from platelet opsonisation by maternal antibodies against fetal platelet antigens inherited from the infant's father. Newborn monochorionic twins presented with petechial haemorrhages at 10 hours of life, along with severe thrombocytopaenia. Despite the initial treatment with platelet transfusions and intravenous immunoglobulin, they both had persistent thrombocytopaenia during their first 45 days of life. Class I human leucocyte antigen (HLA) antibodies with broad specificity against several HLA-B antigens were detected in the maternal serum...
July 5, 2017: BMJ Case Reports
Hoang V Lam, Dat T Nguyen, Cao D Nguyen
We presented a risk assessment model to distinguish between type 1 diabetes (T1D) affected and unaffected siblings using only three single nucleotide polymorphism (SNP) genotypes. In addition we calculated the heritability from genome-wide identity-by-descent (IBD) sharing between full siblings. We analyzed 1,253 pairs of affected individuals and their unaffected siblings (750 pairs from a discovery set and 503 pairs from a validation set) from the T1D Genetics Consortium (T1DGC), applying a logistic regression to analyze the area under the receiver operator characteristic (ROC) curve (AUC)...
2017: PloS One
Grant P Parnell, David R Booth
Multiple sclerosis (MS) is known to be a partially heritable autoimmune disease. The risk of developing MS increases from typically 1 in 1,000 in the normal population to 1 in 4 or so for identical twins where one twin is affected. Much of this heritability is now explained and is due almost entirely to genes affecting the immune response. The largest and first identified genetic risk factor is an allele from the MHC class II HLA-DRB1 gene, HLA-DRB1*15:01, which increases risk about threefold. The HLA-DRB1 gene is expressed in antigen-presenting cells, and its protein functions in presenting particular types of antigen to CD4 T cells...
2017: Frontiers in Immunology
Elena Generali, Angela Ceribelli, Maria Antonietta Stazi, Carlo Selmi
Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual genetic predisposition provides a rate of heritability. The concordance rates in monozygotic and dizygotic twins allows to estimate the weight of the environment in determining disease susceptibility, despite recent data supporting that only a minority of immune markers depend on hereditary factors...
April 18, 2017: Journal of Autoimmunity
Zhen Wang, Zhiguo Xie, Qianjin Lu, Christopher Chang, Zhiguang Zhou
Type 1 diabetes (T1D) is an autoimmune disease resulting from T cell-mediated β cell destruction in the pancreas of genetically susceptible individuals. Extensive familial and population genetic studies uncovered the strong linkage and association between HLA gene variants and T1D. Non-HLA genes have also been associated with T1D, such as INS, CTLA4, and PTPN22. T1D is considered as one of the most heritable common diseases. However, evidence that monozygotic twins have incomplete concordance of disease susceptibility provides convincing proof that environmental factors also play important roles in the pathogenesis of the disease...
April 2017: Clinical Reviews in Allergy & Immunology
Erik A Ehli, Abdel Abdellaoui, Iryna O Fedko, Charlie Grieser, Sahar Nohzadeh-Malakshah, Gonneke Willemsen, Eco Jc de Geus, Dorret I Boomsma, Gareth E Davies, Jouke J Hottenga
As an example of optimizing population-specific genotyping assays using a whole-genome sequence reference set, we detail the approach that followed to design the Axiom-NL array which is characterized by an improved imputation backbone based on the Genome of the Netherlands (GoNL) reference sequence and, compared with earlier arrays, a more comprehensive inclusion of SNPs on chromosomes X, Y, and the mitochondria. Common variants on the array were selected to be compatible with the Illumina Psych Array and the Affymetrix UK Biobank Axiom array...
February 2017: European Journal of Human Genetics: EJHG
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...
March 2017: European Journal of Haematology
Yuxin Yin, James H Lan, David Nguyen, Nicole Valenzuela, Ping Takemura, Yung-Tsi Bolon, Brianna Springer, Katsuyuki Saito, Ying Zheng, Tim Hague, Agnes Pasztor, Gyorgy Horvath, Krisztina Rigo, Elaine F Reed, Qiuheng Zhang
BACKGROUND: Unambiguous HLA typing is important in hematopoietic stem cell transplantation (HSCT), HLA disease association studies, and solid organ transplantation. However, current molecular typing methods only interrogate the antigen recognition site (ARS) of HLA genes, resulting in many cis-trans ambiguities that require additional typing methods to resolve. Here we report high-resolution HLA typing of 10,063 National Marrow Donor Program (NMDP) registry donors using long-range PCR by next generation sequencing (NGS) approach on buccal swab DNA...
2016: PloS One
Helena Sá, Rita Leal, Manuel Santos Rosa
To deride the hope of progress is the ultimate fatuity, the last word in poverty of spirit and meanness of mind. There is no need to be dismayed by the fact that we cannot yet envisage a definitive solution of our problems, a resting-place beyond which we need not try to go. -P.B. Medawar, 1969 * Thomas E. Starlz, also known as the Father of Clinical Transplantation, once said that organ transplantation was the supreme exception to the rule that most major advances in medicine spring from discoveries in basic science [Starzl T...
May 4, 2017: International Reviews of Immunology
Apostolos D Prodromidis, Charalambos P Charalambous
BACKGROUND: Frozen shoulder is a common disorder that leads to substantial functional loss for patients by impairing activities of daily living. It also adversely affects patients and society by impairing the ability to work. Its pathogenesis is not fully understood. The aim of the present study was to perform a systematic review and meta-analysis to assess the evidence suggesting a genetic link to frozen shoulder. METHODS: A literature search of MEDLINE, EMBASE, and CINAHL databases using relevant keywords revealed 5506 studies...
February 23, 2016: JBJS Reviews
X Y Liu, J Wang, Y H Zeng, C H Ding, X T Shen, W Zhou, R Li, C Q Zhou, Y W Xu
OBJECTIVE: To investigate the efficacy and feasibility of preimplantation genetic diagnosis(PGD)with human leukocyte antigen(HLA)matching for beta-thalassemia. METHODS: A total of 43 referred beta-thalassemia couples, with at least on child in need of hematopoietic stem cell transplantation(HSCT), underwent PGD for HLA matching at the First Affiliated Hospital of Sun Yat-sen University from 2010 to 2015. PGD cycles of these couples were retrospectively analyzed, and 15 infants born from PGD-HLA were followed up...
July 25, 2016: Zhonghua Fu Chan Ke za Zhi
M De Santis, A Ceribelli, F Cavaciocchi, E Generali, M Massarotti, N Isailovic, C Crotti, H U Scherer, C Montecucco, C Selmi
The aim of this study is to investigate the effect of the native, citrullinated or carbamylated type II human collagen T cell- and B cell-epitopes on the adaptive immune response in rheumatoid arthritis (RA). Peripheral blood T and B cells obtained from a human leucocyte D4-related (antigen DR4(-) HLA-DR4)(+) woman with early RA, her healthy monozygotic twin and an unrelated HLA-DR3(+) woman with early RA were analysed for activation (CD154/CD69), apoptosis (annexin/7-aminoactinomycin), cytokine production [interferon (IFN)γ/interleukin (IL)-17/IL-4/IL-10/IL-6] and functional phenotype (CD45Ra/CCR7) after stimulation with the collagen native T cell epitope (T261-273), the K264 carbamylated T cell epitope (carT261-273), the native B cell epitope (B359-369) or the R360 citrullinated B cell epitope (citB359-369), and the combinations of these...
September 2016: Clinical and Experimental Immunology
Katsunori Ikari
Rheumatoid arthritis (RA), the most common autoimmune diseases, is a systemic, chronic inflammatory disease, which is primarily involves the joints affecting up to 1% of the population. RA is believed to be a complex, multifarious disease that is influenced by both genetic and environmental factors. Disease susceptibility has been estimated to have a genetic component of 60% by data from twin studies. To date, more than 100 RA susceptibility loci, including HLA-DRB1, have been identified by genome-wide association studies (GWAS) and GWAS meta-analyses...
June 2016: Nihon Rinsho. Japanese Journal of Clinical Medicine
Quang Tuan Remy Nguyen, Elisabeth Groos, Laurène Leclair-Visonneau, Christelle Monaca-Charley, Tom Rico, Neal Farber, Emmanuel Mignot, Isabelle Arnulf
STUDY OBJECTIVES: Kleine-Levin syndrome (KLS) is a rare, mostly sporadic disorder, characterized by intermittent episodes of hypersomnia plus cognitive and behavior disorders. Although its cause is unknown, multiplex families have been described. We contrasted the clinical and biological features of familial versus sporadic KLS. METHODS: Two samples of patients with KLS from the United States and France (n = 260) were studied using clinical interviews and human leukocyte antigen (HLA) genotyping...
August 1, 2016: Sleep
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