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https://www.readbyqxmd.com/read/27878451/beyond-genetics-what-causes-type-1-diabetes
#1
REVIEW
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...
November 22, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27876820/a-method-to-customize-population-specific-arrays-for-genome-wide-association-testing
#2
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...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27859681/familial-acquired-thrombotic-thrombocytopenic-purpura-in-siblings-no-immunogenetic-link-with-associated-human-leukocyte-antigens
#3
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 leukocyte antigen (HLA) class II types presumably associated with acquired thrombotic thrombocytopenic purpura 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/27798706/application-of-high-throughput-next-generation-sequencing-for-hla-typing-on-buccal-extracted-dna-results-from-over-10-000-donor-recruitment-samples
#4
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
https://www.readbyqxmd.com/read/27682364/renal-transplant-immunology-in-the-last-20-years-a-revolution-towards-graft-and-patient-survival-improvement
#5
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* [Formula: see text] 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...
September 28, 2016: International Reviews of Immunology
https://www.readbyqxmd.com/read/27490134/is-there-a-genetic-predisposition-to-frozen-shoulder-a-systematic-review-and-meta-analysis
#6
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
https://www.readbyqxmd.com/read/27465867/-clinical-analysis-of-preimplantation-genetic-diagnosis-with-hla-matching-for-beta-thalassemia
#7
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
https://www.readbyqxmd.com/read/27314557/effects-of-type-ii-collagen-epitope-carbamylation-and-citrullination-in-human-leucocyte-antigen-hla-dr4-monozygotic-twins-discordant-for-rheumatoid-arthritis
#8
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
https://www.readbyqxmd.com/read/27311175/-genetic-risk-factors-for-rheumatoid-arthritis
#9
REVIEW
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
https://www.readbyqxmd.com/read/27253765/familial-kleine-levin-syndrome-a-specific-entity
#10
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...
2016: Sleep
https://www.readbyqxmd.com/read/27207974/heritability-of-non-hla-genetics-in-coeliac-disease-a-population-based-study-in-107%C3%A2-000-twins
#11
Ralf Kuja-Halkola, Benjamin Lebwohl, Jonas Halfvarson, Cisca Wijmenga, Patrik K E Magnusson, Jonas F Ludvigsson
BACKGROUND AND OBJECTIVE: Almost 100% individuals with coeliac disease (CD) are carriers of the human leucocyte antigen (HLA) DQ2/DQ8 alleles. Earlier studies have, however, failed to consider the HLA system when estimating heritability in CD, thus violating an underlying assumption of heritability analysis. We examined the heritability of CD in a large population-based sample of twins, considering HLA. DESIGN: In a population-representative sample of 107 912 twins, we identified individuals with CD (equal to villous atrophy) through biopsy reports from all Swedish pathology departments...
May 20, 2016: Gut
https://www.readbyqxmd.com/read/27177496/family-study-of-monozygotic-twins-affected-by-pemphigus-vulgaris
#12
Adriana Martinelli Salathiel, Maria José Franco Brochado, Olivia Kim, Neifi Hassan Saloum Deghaide, Eduardo Antonio Donadi, Ana Maria Roselino
Rare are the family studies that include siblings affected by pemphigus vulgaris (PV) and in whom HLA class II alleles are related. HLA-DR and -DQ genotyping and profiling of antibodies against desmogleins (Dsg) 1 and Dsg3 were performed in ten members of a family including monozygotic twins affected by PV. The twin sisters were heterozygotes; they presented the haplotypes most commonly associated with increased susceptibility to PV (DRB1∗04:02-DQA1∗03:01-DQB1∗03:02 and DRB1∗14:04-DQA1∗01:01-DQB1∗05:03)...
July 2016: Human Immunology
https://www.readbyqxmd.com/read/27125219/demonstration-of-autosomal-monoallelic-expression-in-thyroid-tissue-assessed-by-whole-exome-and-bulk-rna-sequencing
#13
Fabien Magne, Bing Ge, Stéphanie Larrivée-Vanier, Guy Van Vliet, Mark E Samuels, Tomi Pastinen, Johnny Deladoëy
BACKGROUND: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of 1/4000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD is predominantly not inherited and has a high discordance rate (>92%) between monozygotic (MZ) twins. The sporadic nature of CHTD might be explained by somatic events such as autosomal monoallelic expression (AME), given that genes expressed in a monoallelic way are more vulnerable to otherwise benign monoallelict genetic or epigenetic mutations...
June 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27004062/molecular-genetic-of-atopic-dermatitis-an-update
#14
REVIEW
Hani A Al-Shobaili, Ahmed A Ahmed, Naief Alnomair, Zeiad Abdulaziz Alobead, Zafar Rasheed
Atopic dermatitis (AD) is a chronic multifactorial inflammatory skin disease. The pathogenesis of AD remains unclear, but the disease results from dysfunctions of skin barrier and immune response, where both genetic and environmental factors play a key role. Recent studies demonstrate the substantial evidences that show a strong genetic association with AD. As for example, AD patients have a positive family history and have a concordance rate in twins. Moreover, several candidate genes have now been suspected that play a central role in the genetic background of AD...
January 2016: International Journal of Health Sciences
https://www.readbyqxmd.com/read/26854192/predominance-of-dr3-in-somali-children-with-type-1-diabetes-in-the-twin-cities-minnesota
#15
Muna Sunni, Janelle A Noble, Liping Yu, Zahra Mahamed, Julie A Lane, Abdirahman M Dhunkal, Melena D Bellin, Brandon Nathan, Jennifer Kyllo, M Jennifer Abuzzahab, Peter A Gottlieb, Sunanda Babu, Taylor Armstrong, Antoinette Moran
BACKGROUND: Minnesota is home to the largest Somali population in USA, and pediatric diabetes teams are seeing increasing numbers of Somali children with diabetes. OBJECTIVE: To assess the immune basis of diabetes in Somali children in the Twin Cities, Minnesota. METHODS: A total of 31 Somali children ≤19 yr were treated for type 1 diabetes (T1D) at the University of Minnesota Masonic Children's Hospital and Children's Hospitals and Clinics of Minnesota underwent analysis of human leukocyte antigen (HLA) alleles (n = 30) and diabetes autoantibodies [glutamic acid decarboxylase (GAD65), islet antigen 2 (IA-2), zinc transporter 8 (ZnT8); n = 31]...
February 8, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/26819262/genetic-loci-for-epstein-barr-virus-nuclear-antigen-1-are-associated-with-risk-of-multiple-sclerosis
#16
Yuan Zhou, Gu Zhu, Jac C Charlesworth, Steve Simpson, Rohina Rubicz, Harald Hh Göring, Nikolaos A Patsopoulos, Caroline Laverty, Feitong Wu, Anjali Henders, Jonathan J Ellis, Ingrid van der Mei, Grant W Montgomery, John Blangero, Joanne E Curran, Matthew P Johnson, Nicholas G Martin, Dale R Nyholt, Bruce V Taylor
BACKGROUND: Infection with the Epstein-Barr virus (EBV) is associated with an increased risk of multiple sclerosis (MS). OBJECTIVE: We sought genetic loci influencing EBV nuclear antigen-1 (EBNA-1) IgG titers and hypothesized that they may play a role in MS risk. METHODS: We performed a genome-wide association study (GWAS) of anti-EBNA-1 IgG titers in 3599 individuals from an unselected twin family cohort, followed by a meta-analysis with data from an independent EBNA-1 GWAS...
January 27, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/26782299/hypomethylation-within-gene-promoter-regions-and-type-1-diabetes-in-discordant-monozygotic-twins
#17
Emon Elboudwarej, Michael Cole, Farren B S Briggs, Alexandra Fouts, Pamela R Fain, Hong Quach, Diana Quach, Elizabeth Sinclair, Lindsey A Criswell, Julie A Lane, Andrea K Steck, Lisa F Barcellos, Janelle A Noble
Genetic susceptibility to type 1 diabetes (T1D) is well supported by epidemiologic evidence; however, disease risk cannot be entirely explained by established genetic variants identified so far. This study addresses the question of whether epigenetic modification of the inherited DNA sequence may contribute to T1D susceptibility. Using the Infinium HumanMethylation450 BeadChip array (450k), a total of seven long-term disease-discordant monozygotic (MZ) twin pairs and five pairs of HLA-identical, disease-discordant non-twin siblings (NTS) were examined for associations between DNA methylation (DNAm) and T1D...
April 2016: Journal of Autoimmunity
https://www.readbyqxmd.com/read/26773629/genetics-of-leprosy-expected-and-unexpected-developments-and-perspectives
#18
Monica E D Sauer, Heloisa Salomão, Geovana B Ramos, Helena R S D'Espindula, Rafael S A Rodrigues, Wilian C Macedo, Renata H M Sindeaux, Marcelo T Mira
A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and complex segregation analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several HLA and non-HLA gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms, and leprosy reactions...
January 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/26715653/protective-effect-of-hla-drb1-13-alleles-during-specific-phases-in-the-development-of-acpa-positive-ra
#19
Jurgen van Heemst, Aase H Hensvold, Xia Jiang, Hanna van Steenbergen, Lars Klareskog, Tom W J Huizinga, Annette van der Helm-van Mil, Anca I Catrina, René E M Toes, Karin Lundberg, Diane van der Woude
OBJECTIVE: Human leucocyte antigen (HLA)-DRB1*13 alleles are associated with protection from anticitrullinated protein antibody (ACPA)-positive rheumatoid arthritis (RA). It is, however, unknown at which phase of disease development (seroconversion, ACPA maturation, disease onset or outcome) these alleles are most important. We therefore examined the effect of HLA-DRB1*13 on: ACPA presence (systemic autoimmunity associated with RA) in individuals with and without RA, on ACPA characteristics and on clinical outcome measures...
October 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26714660/different-responses-to-ustekinumab-of-two-hla-cw6-positive-homozygous-twins-with-psoriasis
#20
Martina Burlando, Emanuele Cozzani, Caterina Campisi, Antonio Di Costanzo, Aurora Parodi
is missing (Short communication).
August 23, 2016: Acta Dermato-venereologica
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