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Allele and haplotype frequencies of HLA-A, -B, -C, -DRB1, -DQB1 in Northern Ossetians from Vladikavkaz, Russia.

https://arctichealth.org/en/permalink/ahliterature296552
Source
Hum Immunol. 2018 Oct; 79(10):709-710
Publication Type
Journal Article
Date
Oct-2018
Author
Elena Kuzminova
Ekaterina Khamaganova
Tatiana Gaponova
Valeriy Savchenko
Author Affiliation
Research Center for Hematology, Novy Zykovsky proezd 4, Moscow, 125167, Russian Federation. Electronic address: kotvanka@gmail.com.
Source
Hum Immunol. 2018 Oct; 79(10):709-710
Date
Oct-2018
Language
English
Publication Type
Journal Article
Keywords
Alleles
Gene Frequency
Genetic Variation
Genetics, Population
HLA-A Antigens - genetics
HLA-B Antigens - genetics
HLA-C Antigens - genetics
HLA-DQ beta-Chains - genetics
HLA-DRB1 Chains - genetics
Haplotypes
Histocompatibility Antigens Class I - genetics
Humans
Russia
Tissue Donors
Abstract
This report shows the HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in a population of 127 healthy Ossetian donors of blood marrow from Vladikavkaz, Russia. First- and second-field (for HLA-C locus) HLA genotyping was performed by polymerase chain reaction sequence-specific priming and/or oligonucleotide probes. Statistical analysis were performed using gene counting and Arlequin software packages. There was no deviation from Hardy-Weinberg equilibrium for all tested loci. The HLA genotypic and haplotypic data of the Ossetians reported here are available in free access at the Allele Frequencies Net Database (http://www.allelefrequencies.net). This data can serve as a reference database for further HLA-based studies in population genetics.
PubMed ID
30081065 View in PubMed
Less detail

Analysis of MHC region genetics in Finnish patients with juvenile idiopathic arthritis: evidence for different locus-specific effects in polyarticular vs pauciarticular subsets and a shared DRB1 epitope.

https://arctichealth.org/en/permalink/ahliterature184602
Source
Genes Immun. 2003 Jul;4(5):326-35
Publication Type
Article
Date
Jul-2003
Author
J A Runstadler
H. Säilä
A. Savolainen
M. Leirisalo-Repo
K. Aho
E. Tuomilehto-Wolf
J. Tuomilehto
M F Seldin
Author Affiliation
Rowe Program in Human Genetics and Molecular Medicine, Department of Biological Chemistry, University of California, Davis, USA. jarunstadler@ucdavis.edu
Source
Genes Immun. 2003 Jul;4(5):326-35
Date
Jul-2003
Language
English
Publication Type
Article
Keywords
Age of Onset
Arthritis, Juvenile - genetics
Case-Control Studies
Chromosomes, Human, Pair 6 - genetics
Finland
Gene Frequency
Genetic Predisposition to Disease
HLA-DR Antigens
HLA-DRB1 Chains
Humans
Linkage Disequilibrium - genetics
Major Histocompatibility Complex - genetics
Microsatellite Repeats - genetics
Sequence Analysis, DNA
Abstract
This study used Finnish juvenile idiopathic arthritis (JIA) probands with pauciarticular and rheumatoid factor (RF) negative polyarticular subtypes of JIA to further define the genetic susceptibility to JIA. We examined 16 markers spanning an 18 cM region of chromosome 6 encompassing the MHC and surrounding genomic region in a set of 235 Finnish JIA nuclear families and 639 Finnish control individuals. Analysis by case/control association and transmission disequilibrium test (TDT) methods each demonstrated strong evidence for a susceptibility locus near the D6S2447 microsatellite (P
PubMed ID
12847547 View in PubMed
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An HLA class-II allele frequent in Eskimos and Amerindians is found in the Tyrolean Ice Man.

https://arctichealth.org/en/permalink/ahliterature192982
Source
Ann Hum Genet. 2001 Jul;65(Pt 4):363-9
Publication Type
Article
Date
Jul-2001
Author
G F Fischer
I. Fae
D. Mann
D. Kriks
W. Jäger
W. Platzer
W R Mayr
B. Volc-Platzer
Author Affiliation
Department of Blood Group Serology, University of Vienna Medical School, Austria. gottfried.fischer@akh-wien.ac.at
Source
Ann Hum Genet. 2001 Jul;65(Pt 4):363-9
Date
Jul-2001
Language
English
Publication Type
Article
Keywords
Alleles
Base Sequence
Calcaneus - metabolism
DNA - genetics - isolation & purification - metabolism
Gene Frequency
Genes, MHC Class II - genetics
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
HLA-DR Antigens - genetics
HLA-DRB1 Chains
History, Ancient
Humans
Indians, North American - genetics
Inuits - genetics
Italy
Male
Molecular Sequence Data
Mummies
Phylogeny
Polymerase Chain Reaction
Sensitivity and specificity
Abstract
DNA was extracted from specimens derived from the calcaneus of the Tyrolean Ice Man under sterile conditions in a laboratory, where no DNA extractions and PCR experiments had been performed before. Agarose gel electrophoresis and ethidium bromide staining did not reveal any evidence of genomic DNA in the preparation obtained, indicating a high degree of DNA degradation. Nevertheless, we performed PCR amplifications with this sample using primer pairs specific for HLA class II alleles. HLA-DRB and DQB1 alleles were amplified in a nested PCR approach. In one of the reactions, we observed a distinct amplification product, which we directly sequenced. By comparing the obtained nucleotide sequence with a database of HLA alleles we assigned the HLA-DRB1*1402 type to the amplified sample. None of the investigators involved possesses this allele, indicating that no contamination with modern DNA had occurred. The HLA-DRB1*1402 allele is extremely rare in Europe, but is common in Inuits and South American Indians and has previously only once been identified in the laboratory.
PubMed ID
11592925 View in PubMed
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Antibodies directed against endogenous and exogenous citrullinated antigens pre-date the onset of rheumatoid arthritis.

https://arctichealth.org/en/permalink/ahliterature287067
Source
Arthritis Res Ther. 2016 Jun 03;18(1):127
Publication Type
Article
Date
Jun-03-2016
Author
Linda Johansson
Federico Pratesi
Mikael Brink
Lisbeth Ärlestig
Claudia D'Amato
Debora Bartaloni
Paola Migliorini
Solbritt Rantapää-Dahlqvist
Source
Arthritis Res Ther. 2016 Jun 03;18(1):127
Date
Jun-03-2016
Language
English
Publication Type
Article
Keywords
Adult
Aged
Arthritis, Rheumatoid - genetics - immunology
Autoantibodies - immunology
Autoantigens - immunology
Case-Control Studies
Citrulline - immunology
Enzyme-Linked Immunosorbent Assay
Female
HLA-DRB1 Chains - genetics
Humans
Male
Middle Aged
Peptides, Cyclic - immunology
Sweden
Abstract
Anti-citrullinated-peptide antibodies (ACPA) have been detected in individuals with developing rheumatoid arthritis (RA) before the onset of symptom, with an initially limited spectrum of reactivities that gradually broadens. The aim was to analyze the evolution of ACPA response pre-dating symptom onset, using four selected citrullinated exogenous and endogenous antigens.
A cohort of 521 individuals sampled before symptoms of RA appeared and 272 population controls were identified from the Biobank of Northern Sweden; 241 samples from patients with early RA were also collected. ACPA were detected by ELISA on viral citrullinated peptides (VCP) derived from Epstein-Barr-virus nuclear antigen (EBNA)1 and EBNA2 (VCP1 and VCP2) and histone-4-derived citrullinated peptides (HCP1 and HCP2).
In pre-symptomatic individuals vs. patients with early RA, anti-VCP1 antibodies were detected in 10.4 % vs. 36.1 %, anti-VCP2 in 17.1 % vs. 52.3 %, anti-HCP1 in 10.2 % vs. 37.3 %, and anti-HCP2 in 16.3 % vs. 48.5 %, respectively. Anti-VCP and anti-HCP concentrations were significantly increased in pre-symptomatic individuals vs. controls (p?
Notes
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PubMed ID
27255888 View in PubMed
Less detail

Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis.

https://arctichealth.org/en/permalink/ahliterature287540
Source
Liver Int. 2017 Mar;37(3):458-465
Publication Type
Article
Date
Mar-2017
Author
Johannes R Hov
Kirsten M Boberg
Eli Taraldsrud
Mette Vesterhus
Maria Boyadzhieva
Inger Camilla Solberg
Erik Schrumpf
Morten H Vatn
Benedicte A Lie
Øyvind Molberg
Tom H Karlsen
Source
Liver Int. 2017 Mar;37(3):458-465
Date
Mar-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Antibodies, Antineutrophil Cytoplasmic - blood
Biomarkers
Case-Control Studies
Cholangitis, Sclerosing - blood - genetics
Cross-Sectional Studies
Databases, Factual
Female
Fluorescent Antibody Technique, Indirect
Genotype
HLA-B27 Antigen - genetics
HLA-DRB1 Chains - genetics
Humans
Inflammatory Bowel Diseases - genetics
Logistic Models
Male
Middle Aged
Norway
Young Adult
Abstract
The strongest genetic risk factors in primary sclerosing cholangitis (PSC) are encoded in the HLA complex. Antineutrophil cytoplasmic antibodies (ANCA) have been reported in up to 94% of PSC patients, but their clinical significance and immunogenetic basis are ill defined. We aimed to characterize clinical and genetic associations of ANCA in PSC.
Antineutrophil cytoplasmic antibodies were analysed with indirect immunofluorescence in 241 Norwegian PSC patients. HLA-B and HLA-DRB1 genotyping was performed in the patients and in 368 healthy controls. Data on perinuclear ANCA (pANCA) and HLA-DRB1 were available from 274 ulcerative colitis (UC) patients without known liver disease.
Antineutrophil cytoplasmic antibodies were found in 193 (80%) of the PSC patients, with pANCA in 169 (70%). ANCA-positive patients were younger than ANCA negative at diagnosis of PSC and had a lower frequency of biliary cancer (9% vs 19%, P=.047). There were no differences between PSC patients with and without inflammatory bowel disease. Genetically, the strong PSC risk factors HLA-B*08 (frequency in healthy 13%) and DRB1*03 (14%) were more prevalent in ANCA-positive than -negative patients (43% vs 25%, P=.0012 and 43% vs 25%, P=.0015 respectively). The results were similar when restricting the analysis to pANCA-positive patients. In UC patients without liver disease, HLA-DRB1*03 was more prevalent in pANCA-positive compared with -negative patients (P=.03).
Antineutrophil cytoplasmic antibodies identified PSC patients with particular clinical and genetic characteristics, suggesting that ANCA may mark a clinically relevant pathogenetic subgroup in the PSC-UC disease spectrum.
PubMed ID
27558072 View in PubMed
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Association Between HLA Haplotypes and Increased Serum Levels of IgG4 in Patients With Primary Sclerosing Cholangitis.

https://arctichealth.org/en/permalink/ahliterature264232
Source
Gastroenterology. 2015 May;148(5):924-927.e2
Publication Type
Article
Date
May-2015
Author
Natalie L Berntsen
Olav Klingenberg
Brian D Juran
Maria Benito de Valle
Björn Lindkvist
Konstantinos N Lazaridis
Kirsten Muri Boberg
Tom H Karlsen
Johannes Roksund Hov
Source
Gastroenterology. 2015 May;148(5):924-927.e2
Date
May-2015
Language
English
Publication Type
Article
Keywords
Biological Markers - blood
Cholangitis, Sclerosing - blood - diagnosis - genetics - immunology
Gene Frequency
Genetic Predisposition to Disease
HLA Antigens - genetics
HLA-B7 Antigen - genetics
HLA-B8 Antigen - genetics
HLA-DRB1 Chains - genetics
Haplotypes
Humans
Immunoglobulin G - blood
Norway
Phenotype
Sweden
United States
Up-Regulation
Abstract
Increased serum levels of IgG4 have been reported in 9%-15% of patients with primary sclerosing cholangitis (PSC); it is not clear whether this increase contributes to pathogenesis. We performed genetic analyses of the HLA complex in patients with PSC from Norway, Sweden, and from the United States. We found an association between levels of IgG4 above the upper reference limit and specific HLA haplotypes. These patients had a significantly lower frequency of the strongest PSC risk factor, HLA-B*08, than patients without increased IgG4, and significantly higher frequencies of HLA-B*07 and HLA-DRB1*15. HLA genotype therefore might affect the serum concentration of IgG4, and increased IgG4 might be a marker of a distinct phenotype of PSC.
Notes
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Comment In: Gastroenterology. 2015 May;148(5):886-925805418
PubMed ID
25655558 View in PubMed
Less detail

Association of HLA-DRB1*01 with Dupuytren's disease.

https://arctichealth.org/en/permalink/ahliterature120555
Source
Scand J Rheumatol. 2013;42(1):45-7
Publication Type
Article
Date
2013
Author
T. Jónsson
K G Gudmundsson
K. Bjarnadóttir
I B Hjálmarsdótti
S. Gudmundsson
R. Arngrímsson
Author Affiliation
The Blood Bank, Landspitali University Hospital, Reykjavík, Iceland.
Source
Scand J Rheumatol. 2013;42(1):45-7
Date
2013
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Cohort Studies
Dupuytren Contracture - epidemiology - genetics
European Continental Ancestry Group - genetics
Female
Gene Frequency
Genetic Predisposition to Disease - epidemiology - genetics
Genotype
HLA-DRB1 Chains - genetics
Health Surveys
Humans
Iceland - epidemiology
Male
Sex Distribution
Abstract
To explore the human leucocyte antigen (HLA)-DRB1 allele frequency in Dupuytren's disease (DD).
HLA-DRB1 genotypes were analysed by sequence-specific primers (SSPs) in samples collected from 172 men participating in a nested case-control study on the clinical manifestations and progression of DD. Of those, 121 had signs of DD while 51 did not. Of the 121 men with DD, 49 had contracted fingers or had been operated on, while 72 had nodules or fibrous cords in the palms. Odds ratios (ORs) and 95% confidence interval (CIs) were used to evaluate the results.
The HLA-DRB1*01 allele was observed in 26 of the 121 affected men (23.7%) but in only four of the controls (7.8%) (OR 3.22, 95% CI 1.06-9.75). The HLA-DRB1*01 allele frequency in those affected was 11%, while in the control group it was 4% (OR 3.07, 95% CI 1.05-9.03).
This observation indicates a possible association of HLA-DRB1*01 with DD, but further studies are needed for confirmation.
PubMed ID
22991974 View in PubMed
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Association of HLA-DRB1, interleukin-6 and cyclin D1 polymorphisms with cervical cancer in the Swedish population--a candidate gene approach.

https://arctichealth.org/en/permalink/ahliterature149818
Source
Int J Cancer. 2009 Oct 15;125(8):1851-8
Publication Type
Article
Date
Oct-15-2009
Author
Felipe A Castro
Katri Haimila
Inna Sareneva
Markus Schmitt
Justo Lorenzo
Nelli Kunkel
Rajiv Kumar
Asta Försti
Lennart Kjellberg
Göran Hallmans
Matti Lehtinen
Kari Hemminki
Michael Pawlita
Author Affiliation
Division Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), D-69120 Heidelberg, Germany.
Source
Int J Cancer. 2009 Oct 15;125(8):1851-8
Date
Oct-15-2009
Language
English
Publication Type
Article
Keywords
Adult
Aged
Case-Control Studies
Cervix Uteri - metabolism - pathology
Cyclin D1 - genetics
Female
Genotype
HLA-DR Antigens - genetics
HLA-DRB1 Chains
Humans
Interleukin-6 - genetics
Middle Aged
Papillomaviridae - genetics
Papillomavirus Infections - epidemiology - genetics - virology
Polymerase Chain Reaction
Polymorphism, Single Nucleotide - genetics
Risk factors
Sweden - epidemiology
Uterine Cervical Neoplasms - epidemiology - genetics - virology
Young Adult
Abstract
High-risk human papillomavirus (hrHPV) infection is the major risk factor for cervical cancer (CxCa). The role of genetic susceptibility in the disease has been suggested, but the existing data lack consistency. We conducted a nested case-control study on 973 CxCa cases and 1,763 matched controls, from two Swedish population-based cohorts to examine the association of common genetic variants with CxCa risk. Human leukocyte antigen (HLA) alleles and 24 other polymorphisms in 14 genes were selected on the basis of reported association or mechanistic plausibility with an HPV infection or cervical cancer development. Genotyping was conducted using multiplex PCR and Luminex technology. A significant association of CxCa with various polymorphisms was observed: rs1800797 in the IL-6 gene (odds ratio [OR] = 0.88, 95% confidence intervals [CI]: 0.79-0.99); rs1041981 in the LTA gene (OR = 0.87, 95% CI: 0.78-0.98), and rs9344 in the CCND1 gene (OR = 1.14, 95% CI: 1.02-1.27), for those individuals carrying the rare allele. Additionally, the alleles 0401 and 1501 of the HLA class II DRB1 locus were associated with an increased risk (OR = 1.23, 95% CI: 1.04-1.45 and OR = 1.29, 95% CI: 1.11-1.50, respectively), and allele 1301 was associated with decreased risk (OR = 0.59, 95% CI: 0.47-0.73). The effects of CCND1 and the HLA*DRB1 alleles were independent of the effect of smoking. We did not find any association of risk with polymorphisms in genes related to the innate immune system. In conclusion, our study provides evidence for genetic susceptibility to CxCa due to variations in genes involved in the immune system and in cell cycle.
PubMed ID
19585495 View in PubMed
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.

https://arctichealth.org/en/permalink/ahliterature158286
Source
Inflamm Bowel Dis. 2008 Aug;14(8):1118-24
Publication Type
Article
Date
Aug-2008
Author
Maarit Lappalainen
Leena Halme
Ulla Turunen
Päivi Saavalainen
Elisabet Einarsdottir
Martti Färkkilä
Kimmo Kontula
Paulina Paavola-Sakki
Author Affiliation
Research Program for Molecular Medicine, Biomedicum Helsinki, Finland.
Source
Inflamm Bowel Dis. 2008 Aug;14(8):1118-24
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Colitis, Ulcerative - genetics
Crohn Disease - genetics
Female
Finland
Genetic markers
Genetic Predisposition to Disease
HLA-DR Antigens - genetics
HLA-DRB1 Chains
Humans
Inflammatory Bowel Diseases - genetics
Male
Phenotype
Polymorphism, Single Nucleotide
Receptors, Interleukin - genetics
Receptors, Tumor Necrosis Factor, Type I - genetics
Toll-Like Receptor 4 - genetics
Abstract
Crohn's disease (CD) and ulcerative colitis (UC), 2 major forms of inflammatory bowel disease (IBD), are complex disorders with significant genetic predisposition. The first CD-associated gene, CARD15/NOD2, was recently identified and since then several reports on novel IBD candidate genes have emerged. We investigated disease phenotype association to genetic variations in IL23R, ATG16L1, DLG5, ABCB1/MDR1, TLR4, TNFRSF1A, chromosome 5 risk haplotype including SLC22A4 and SLC22A5, and HLA-DRB1*0103 allele among Finnish IBD patients.
A total of 699 IBD patients were genotyped for disease-associated variants by polymerase chain reaction (PCR) and restriction enzyme digestion or Sequenom iPLEX method.
Five markers spanning the IL23R gene were associated with CD. The SNP (single nucleotide polymorphism) rs2201841 gave the strongest association (P = 0.002). The rare HLA-DRB1*0103 allele was found to associate with UC (P = 0.008), and the TNFRSF1A A36G variant was associated with familial UC (P = 0.007). Upon phenotypic analysis we detected association between familial UC and rare TNFRSF1A alleles 36G and IVS6+10G (P = 0.001 and P = 0.042, respectively). In addition, IL23R markers were associated with stricturing CD (P = 0.010-0.017), and ileocolonic CD was more prevalent in the carriers of the same 2 TNFRSF1A variants (P = 0.021 and P = 0.028, respectively). Less significant genotype-phenotype associations were observed for the TLR4 and HLA variants.
We were able to replicate the association of the IL23R variants with CD as well as HLA-DRB1*0103 with UC; confirmation of TNFRSF1A association with UC needs additional studies. Our findings also suggest that polymorphisms at IL23R and TNFRSF1A, and possibly HLA and TLR4, loci may account for phenotypic variation in IBD.
PubMed ID
18338763 View in PubMed
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Association of serum 25-hydroxyvitamin D concentration with HLA-B, -DRB1 and -DQB1 genetic polymorphisms.

https://arctichealth.org/en/permalink/ahliterature288176
Source
Eur J Clin Nutr. 2017 Jan;71(1):128-131
Publication Type
Article
Date
Jan-2017
Author
M E Miettinen
L. Kinnunen
V. Harjutsalo
K. Aimonen
H-M Surcel
C. Lamberg-Allardt
J. Tuomilehto
Source
Eur J Clin Nutr. 2017 Jan;71(1):128-131
Date
Jan-2017
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Case-Control Studies
Child
Diabetes Mellitus, Type 1 - genetics
Female
Finland
Genetic Predisposition to Disease
Genotype
HLA-B Antigens - genetics
HLA-DQ beta-Chains - genetics
HLA-DRB1 Chains - genetics
Humans
Polymorphism, Genetic
Pregnancy
Pregnancy Trimester, First - blood
Vitamin D - analogs & derivatives - blood
Abstract
The human leukocyte antigen (HLA) gene region associates with the risk for several autoimmune diseases, including type 1 diabetes. An association between vitamin D deficiency and several autoimmune diseases has been suggested. We tested the association between serum 25-hydroxyvitamin D (25OHD) concentrations and HLA alleles in pregnant Finnish women.
HLA-B (n=395), HLA-DRB1 (n=501) and HLA-DQB1 (n=475) alleles were genotyped in pregnant women (mothers of children who later developed type 1 diabetes and mothers of non-diabetic children). HLA-B alleles were divided into supertypes that share similar peptide-binding specificity. Serum 25OHD concentration had been previously measured in these women from sera collected during the first trimester of pregnancy. Multiple testing was controlled for using the false discovery rate method.
An association was found between 25OHD concentration and HLA-B44 supertype (P=0.009); women with HLA-B44 supertype (B*18, B*37, B*40 and B*44 alleles) had lower 25OHD concentrations. No association was found between HLA-DRB1 or -DQB1 alleles and 25OHD concentration.
In this study we found for the first time an association between HLA genetic polymorphisms and 25OHD concentration. In future studies, the mechanistic background of this association and the role of vitamin D in the regulation of HLA gene expression should be investigated.
Notes
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PubMed ID
27623983 View in PubMed
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