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Nel Otting, Marit K H van der Wiel, Nanine de Groot, Annemiek J M de Vos-Rouweler, Natasja G de Groot, Gaby G M Doxiadis, Roger W Wiseman, David H O'Connor, Ronald E Bontrop
The human major histocompatibility complex (MHC) region encodes three types of class II molecules designated HLA-DR, -DQ, and -DP. Both the HLA-DQ and -DP gene region comprise a duplicated tandem of A and B genes, whereas in macaques, only one set of genes is present per region. A substantial sequencing project on the DQ and DP genes in various macaque populations resulted in the detection of previously 304 unreported full-length alleles. Phylogenetic studies showed that humans and macaques share trans-species lineages for the DQA1 and DQB1 genes, whereas the DPA1 and DPB1 lineages in macaques appear to be species-specific...
October 22, 2016: Immunogenetics
Berglind Jonsdottir, Christer Larsson, Annelie Carlsson, Gun Forsander, Sten Anders Ivarsson, Åke Lernmark, Johnny Ludvigsson, Claude Marcus, Ulf Samuelsson, Eva Örtqvist, Helena Elding Larsson
CONTEXT: Screening of autoimmune thyroid disease in children and young adults with Type 1 diabetes is important but vary greatly between clinics. OBJECTIVE: The aim was to determine the predictive value of thyroid autoantibodies, thyroid function, islet autoantibodies, and HLA- DQ at diagnosis of Type 1 diabetes for autoimmune thyroid disease during subsequent follow-up. SETTING: 43 Paediatric Endocrinology units Sweden. Design, patients and main outcome measures: At diagnosis of Type 1 diabetes, samples from 2433 children were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), glutamic acid decarboxylase (GADA), insulin (IAA), insulinoma-associated protein-2 (IA-2A), and the three variants of the zinc transporter 8 (ZnT8W/R/QA) as well as HLA-DQA1-B1 genotypes and thyroid function...
October 14, 2016: Journal of Clinical Endocrinology and Metabolism
C Montén, Å Torinsson Naluai, D Agardh
Neurotensin (NT) is a gut hormone functioning proinflammatory through nuclear factor kappa B (NF-κB) and interleukin (IL)-8 secretion or anti-inflammatory through epidermal growth factor receptors. NT mRNA is down-regulated in duodenal biopsies of children with untreated coeliac disease. The aim of this study was to investigate if plasma pro-NT levels correlated with the degree of intestinal mucosal damage and tissue transglutaminase autoantibody (tTGA) levels in children with coeliac disease. Fasting plasma samples from 96 children with coeliac disease and 89 non-coeliac disease controls were analysed for NT precursor fragment pro-NT 1-117 by a chemiluminometric immunoassay...
September 10, 2016: Clinical and Experimental Immunology
Virginia Leiro-Fernández, Diana Valverde, Rafael Vázquez-Gallardo, Lucía Constenla-Caramés, Víctor Del Campo-Pérez, Alberto Fernández-Villar
AIMS: To evaluate the role of human leukocyte antigen (HLA) class II DQB1*0201 and DQA1*0102 in the risk of antituberculosis drug (ATD)-induced hepatotoxicity (ATDH) in a cohort of tuberculosis patients of Caucasian origin from Spain. METHODS: Matched case-control study including active tuberculosis (TB) patients from Spain (Caucasian) treated with first-line ATD (Isoniazid, Rifampin, and Pyrazinamide). Presence or absence of HLA class II DQB1*0201 and DQA1*0102 alleles were compared between cases and controls...
2016: Frontiers in Medicine
Yuka Ochi, Senju Hashimoto, Naoto Kawabe, Michihito Murao, Takuji Nakano, Toshiki Kan, Kazunori Nakaoka, Masashi Ohki, Takamitsu Kurashita, Tomoki Takamura, Sayuri Nomura, Toru Nishikawa, Aiko Fukui, Keisuke Osakabe, Naohiro Ichino, Kentaro Yoshioka
AIM: Genome-wide association studies have revealed that single nucleotide polymorphism (SNP) of human leukocyte antigen (HLA)-DQ is associated with the clearance of hepatitis B surface antigen (HBsAg) in acute hepatitis B virus (HBV) infection. We examined the effects of SNPs on the development of hepatocellular carcinoma (HCC) and markers of HBV in chronic HBV infection. METHODS: The SNPs of HLA-DQ (rs2856718 and rs7453920) were determined in 299 patients with chronic HBV infection...
August 31, 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
O M Kolesnikova
We undertook the analysis of genetic polymorphism of the HLADQA1 and DQB1 genes in the patients presenting with recurrent respiratory papillomatosis (n=21) with the use of the multiprimer polymerase chain reaction. The results of the study give evidence that the identification of DQ 2.5 and DQ 7.5 haplotypes encoded by the DQA1 *0501, DQB1 *0201, DQA1 *0505, and DQB1 *0301 alleles as well as the carriage of type 16 human papilloma virus (HPV) in combination with these haplotypes in the patients with recurrent respiratory papillomatosis can be used for the prognostication of the severity of this disease...
2016: Vestnik Otorinolaringologii
Daniela Larizza, Mara De Amici, Catherine Klersy, Michela Albanesi, Riccardo Albertini, Carla Badulli, Cristina Torre, Valeria Calcaterra
BACKGROUND/AIMS: Patients with type 1 diabetes mellitus (T1DM), autoimmune thyroiditis (ATD), and celiac disease (CD) are at increased risk for developing other autoimmune diseases. We evaluated zinc transporter 8 (ZnT8) prevalence in patients with ATD and/or CD in order to define the usefulness of ZnT8 autoantibodies for prediabetes screening. METHODS: Eighty-one young patients with ATD and/or CD were included in the study; 32 subjects with clinical onset of T1DM were enrolled as a control group...
2016: Hormone Research in Pædiatrics
Xinle Liu, Bin Yang, Lixin Li, Bei Cai, Yun Liao, Linhui Li, Zhiqiang Wu, Lanlan Wang
Ankylosing spondylitis (AS) is a highly heritable complex inflammatory arthritis disease. Genetic factors are thought to be crucial in the pathogenesis of AS. However, few data are available on the relationship between HLA-DP/DQ and STAT4 polymorphisms and AS susceptibility in the Chinese population. Therefore, we examined HLA-DP/DQ and STAT4 polymorphisms (rs3077, rs9277535, rs7453920 and rs7574865) in a total of 779 subjects, including 400 AS and 379 age- and sex-matched healthy controls in Chinese. No significant difference was observed between AS patients and healthy controls in the allele frequency of rs3077, rs9277535 and rs7574865...
October 2016: International Immunopharmacology
Rene J Duquesnoy, Gideon Hönger, Irene Hösli, Marilyn Marrari, Stefan Schaub
The concept that HLA antibodies recognize epitopes is leading to new approaches of HLA matching at the epitope level. HLA-DQ plays an important role and many studies have identified structurally defined DQ epitopes specifically recognized by antibodies; they have been recorded in the International HLA Epitope Registry but the list is still incomplete. Pregnancy offers an attractive model to study antibody responses to HLA epitopes. The current analysis was done on 42 DQ-reactive post-pregnancy sera tested in binding assays with a panel of DQ heterodimers...
October 2016: Human Immunology
Martha Pérez-Rodríguez, Oswaldo Partida-Rodríguez, Margarita Camorlinga-Ponce, Lourdes Flores-Luna, Eduardo Lazcano, Alejandro Gómez, Roberto Herrera-Goepfert, Rafael Medrano-Gómez, Javier Torres
BACKGROUND: Polymorphisms in inflammation-related genes are factors associated with the development of gastroduodenal diseases in Helicobacter pylori-infected individuals. MATERIALS AND METHODS: We aimed to analyze polymorphisms in HLA-DQ, together with other host and H. pylori variables as risk factors for precancerous and cancerous gastric lesions. 1052 individuals were studied, including nonatrophic gastritis (NAG), intestinal metaplasia (IM), gastric cancer (GC) or duodenal ulcer (DU) patients, and healthy volunteers...
June 23, 2016: Helicobacter
Nilakshi Samaranayake, Sumadhya D Fernando, Nilaksha F Neththikumara, Chaturaka Rodrigo, Nadira D Karunaweera, Vajira H W Dissanayake
BACKGROUND: The outcome of leishmaniasis is an interplay between Leishamania and the host. Identifying contributory host genetic factors is complicated by the variability in phenotype, ethnicity and parasite species. Leishmaniasis is caused exclusively by L. donovani in Sri Lanka with localized cutaneous leishmaniasis (LCL) being the predominant form. We report here an association study of human leucocyte antigen (HLA) class I and II genes with LCL in Sri Lanka, the first on HLA associations in cutaneous leishmaniasis in a South Asian population...
2016: BMC Infectious Diseases
Shallu Tomer, Yogesh K Chawla, Ajay Duseja, Sunil K Arora
AIM: To elucidate the molecular mechanisms leading to development of functionally impaired dendritic cells (DCs) in chronic hepatitis C (CHC) patients infected with genotype 3 virus. METHODS: This prospective study was conducted on the cohorts of CHC individuals identified as responders or non-responders to antiviral therapy. Myeloid DCs were isolated from the peripheral blood of each subject using CD1c (BDCA1)(+) DC isolation Kit. Monocytes from healthy donor were cultured with DC growth factors such as IL-4 and GM-CSF either in the presence or absence of hepatitis C virus (HCV) viral proteins followed by LPS stimulation...
June 14, 2016: World Journal of Gastroenterology: WJG
Xin Xiang, Yuxuan Guo, Li Yang, Qinghui Ge, Sadatgul Mijit, Feili Xu
Several genome-wide association studies (GWAS) have shown that human leukocyte antigen (HLA) DP/DQ gene polymorphisms are associated with susceptibility to chronic hepatitis B virus (HBV) infection. We clarified the roles of the HLA-DP/DQ gene in HBV infection in different nationalities. Three single nucleotide polymorphisms (SNPs) in HLA-DP (rs9277471, rs9277535 and rs9277542) and the SNP rs9272346 in HLA-DQ were studied. In total, 779 patients were recruited to this study, including 400 Chinese Han and 399 Uygurs...
September 2016: Infection, Genetics and Evolution
Simon Murch
Recent diagnostic advances have demonstrated that celiac disease is relatively common although most patients have less florid symptoms than previously recognised. The mucosal lesion of this autoimmune disorder depends on both adaptive and innate immune responses. The characteristic antibodies to tissue transglutaminase-2 (tTG-2) and deamidated gliadin peptides may be produced in persons possessing the relevant HLA-DQ genotypes if intact gliadin peptides can penetrate the epithelial barrier to reach antigen presenting cells...
June 8, 2016: Indian Journal of Pediatrics
Amany A Ghazy, Nour M El-Etreby
BACKGROUND: Ovarian cancer is one of the most lethal gynecological malignancies and the fifth leading cause of cancer deaths among women. The high mortality rate is largely attributed to its diagnosis in advanced stages. Poor prognosis of ovarian cancer is usually due to the lack of specific or effective screening and diagnostic methods for identifying early-stage disease. AIM: Our study aimed to study the role of HLA-DP, HLA-DQ, and ICAM-1 SNPs in diagnosis and/or prognosis of ovarian tumors...
2016: Frontiers in Immunology
Jia-Hao Fan, Si-Hui Hou, Li Qing-Ling, Jun Hu, Hong Peng, Jin-Jun Guo
UNLABELLED:  Background and aim. Leukocyte antigen DQ (HLA-DQ) and interferon-λ4 (IFNL4) gene polymorphisms were associated with susceptibility to chronic hepatitis B and C virus infection. This study further confirmed that variants of these genes were associated with susceptibility and spontaneous clearance of HBV infection in a Chinese population. MATERIAL AND METHODS: A total of 1,069 subjects were recruited and divided into three groups i.e. 397 with CLD (HBV-related chronic liver disease), 434 with SC (spontaneous clearance), and 238 HC (healthy controls)...
July 2016: Annals of Hepatology
T Mongkolsuk, C Tammakorn, P Kitpoka, D Thammanichanond
BACKGROUND: The presence of donor-specific human leukocyte antigen antibodies (HLA-DSA) can be determined by performing Luminex assay with single-antigen beads. The single-antigen beads' panels cover the most frequent HLA alleles of the HLA-A, B, C, DRB1, DRB3/4/5, DQB, and DP loci, although the HLA typing for deceased donors often includes only HLA-A, B, and DR. Therefore, the information of haplotypic association between DRB1 and DQB1 is essential for the analysis of HLA-DSA, especially when HLA-DQ antibodies are identified in the patient's serum...
April 2016: Transplantation Proceedings
Anat R Tambur
PURPOSE OF REVIEW: Significant interest is now focused on deciphering human leukocyte antigen (HLA) epitopes and the utilization of this new knowledge to improve donor-recipient matching in transplantation. A recently introduced concept is the appearance of antibodies against what may be considered as self-epitopes, including the introduction of the 'nonself-self paradigm'. RECENT FINDINGS: Common practice in analyzing HLA-DQ antibodies have been to separate between antibodies against the α chain and antibodies against the β chain of the molecule...
August 2016: Current Opinion in Organ Transplantation
Xia Gao, Wenxuan Liu, Xiaolin Zhang, Longmei Tang, Liqin Wang, Lina Yan, Haitao Yang, Tao Li, Lei Yang, Ning Ma, Dianwu Liu
Several recent genome-wide studies showed that the genetic polymorphisms in the HLA-DQ region (rs9275572 and rs2856718) were related to chronic hepatitis B virus (HBV) infection and chronic hepatitis C virus (HCV)-associated hepatocellular carcinoma (HCC). We analyzed the two single-nucleotide polymorphisms for major HBV outcomes in Han Chinese. A total of 1291 samples were involved and peripheral blood samples were collected in this study. Matrix-assisted laser desorption/ionization time of flight mass spectrometry were used to genotype the single-nucleotide polymorphisms in the HLA-DQ region...
May 21, 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
Maria P Bettinotti, Andrea A Zachary, Mary S Leffell
PURPOSE OF REVIEW: Accurate and timely detection and characterization of human leukocyte antigen (HLA) antibodies are critical for pre-transplant and post-transplant immunological risk assessment. Solid phase immunoassays have provided increased sensitivity and specificity, but test interpretation is not always straightforward. This review will discuss the result interpretation considering technical limitations; assessment of relative antibody strength; and the integration of data for risk stratification from complementary testing and the patient's immunological history...
August 2016: Current Opinion in Organ Transplantation
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