HLA Status in Patients with Chronic Spontaneous Urticaria

Bożek, Andrzej; Krajewska, Jolanta; Filipowska, Barbara; Polańska, Joanna; Rachowska, Regina; Grzanka, Alicja; Jarząb, Jerzy

doi:10.1159/000316354

Cited by 21 publications

(20 citation statements)

References 30 publications

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“…Although not previously identified as a gene of interest in food allergy, HLA-B differences are seen in drug hypersensitivity reactions (27) and chronic idiopathic urticaria (28). Moreover, region 6p21.33, in which HLA-B resides, is a susceptibility locus for subjects with environmental allergy (29).…”

Section: Discussionmentioning

confidence: 99%

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Fung

Glessner

et al. 2015

The Journal of Immunology

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Food allergy is a significant public health concern, especially among children. Previous candidate gene studies suggested a few susceptibility loci for food allergy, but no study investigated the contribution of copy number variations (CNVs) to food allergy on a genome-wide scale. To investigate the genetics of food allergy, we performed CNV assessment using high-resolution genome-wide single nucleotide polymorphism arrays. CNV calls from a total of 357 cases with confirmed food allergy and 3980 controls were analyzed within a discovery cohort, followed by a replication analysis composed of 167 cases and 1573 controls. We identified that CNVs in CTNNA3 were significantly associated with food allergy in both the discovery cohort and the replication cohort. Of particular interest, CTNNA3 CNVs hit exons or intron regions rich in histone marker H3K4Me1. CNVs in a second gene (RBFOX1) showed a significant association (p = 7.35 × 10−5) with food allergy at the genome-wide level in our meta-analysis of the European ancestry cohorts. The presence of these CNVs was confirmed by quantitative PCR. Furthermore, knockdown of CTNNA3 resulted in upregulation of CD63 and CD203c in mononuclear cells upon PMA stimulation, suggesting a role in sensitization to allergen. We uncovered at least two plausible genes harboring CNV loci that are enriched in pediatric patients with food allergies. The novel gene candidates discovered in this study by genome-wide CNV analysis are compelling drug and diagnostic targets for food allergy.

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Section: Discussionmentioning

confidence: 99%

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Fung

Glessner

et al. 2015

The Journal of Immunology

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“…A possible protective role for HLA-A24 (Turkey)76 and -A33 (Poland)77 was identified in CU. However, the HLA antigens HLA-Bw4 (Turkey),76 -B14 (Brazil),78 and -B44 (Poland and Turkey)77,79 may be responsible for susceptibility to CU. Notably, the prevalence of HLA-B14 was higher in patients with CU with high IgG to TPO levels 78.…”

Section: The Candidate Gene Approach In Cumentioning

confidence: 95%

“…HLA class II alleles and CU were further investigated in a variety of ethnic groups. Significantly higher frequencies of HLA-DQ1 (Turkey),76 -DQB1 * 0302 (UK),81 -DRB1 * 01 (Turkey),79 -DRB1 * 04 (UK, Turkey and Poland),77,81,82 -DRB1 * 0901 (China),83 -DRB1 * 12 (China),83 and -DRB1 * 15 (Turkey)79 were noted in CU patients. However, HLA-DRB1 * 15 (UK),81 -DQB1 * 06 (UK),81 and -DQB1 * 05 (China)83 were found to be protective factors in CU patients.…”

Section: The Candidate Gene Approach In Cumentioning

confidence: 95%

Molecular Genetic Mechanisms of Chronic Urticaria

Losol

Yoo

Park

2014

Allergy Asthma Immunol Res

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Chronic urticaria (CU) is a common allergic skin disease that requires long-term pharmacological treatment. Some patients with severe CU suffer a poor quality of life. Although the pathogenic mechanisms of CU are not clearly understood, several groups have suggested that genetic mechanisms are involved in various CU cohorts. To further understand the molecular genetic mechanisms of CU, we summarize recent genetic data in this review. Although a few HLA alleles were suggested to be candidate markers in different ethnic groups, further replication studies that apply the recent classification are needed. Genetic polymorphisms in histamine-related genes, including FcεRI and HNMT, were suggested to be involved in mast cell activation and histamine metabolism. Several genetic polymorphisms of leukotriene-related genes, such as ALOX5, LTC4S, and the PGE2 receptor gene PTGER4, were suggested to be involved in leukotriene overproduction, a pathogenic mechanism. Further investigations using candidate gene approaches and genome-wide association studies (GWAS) will provide new insights into the molecular genetic mechanisms of CU, which will provide new marker genes for differentiation of CU phenotypes and identification of potential therapeutic targets.

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“…It is well known that genetic factors underlie many autoimmune disorders, and an association with specific antigens of the major complex of histocompatibility has been frequently found (16). For CSU, an association with HLA-DR4 has been reported (9). A strong association of GD with HLA-DR3 (HLA DRB1*0301) has been observed in Caucasian subjects, and more recent studies indicate that HLA-DR3 is in strong linkage dis-Arq Bras Endocrinol Metab.…”

Section: Discussionmentioning

confidence: 99%

The unusual association of Graves' disease, chronic spontaneous urticaria, and premature ovarian failure: report of a case and HLA haplotype characterization

Ruggeri¹,

Vita²,

D'Angelo

et al. 2013

Arq Bras Endocrinol Metab

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SUMMARYChronic spontaneous urticaria (CSU), defined as the occurrence of spontaneous wheals for more than six weeks, has been associated with autoimmune diseases. Herein, we report the unusual association of CSU, Graves' disease, and premature ovarian failure. Human leukocyte antigen (HLA) studies were performed. A 36-year-old woman presented symptoms and signs of hyperthyroidism for three months. In the same period, the patient complained of widespread urticarial wheals, intensely itchy, and poorly responsive to therapy with antihistaminic agents. Hyperthyroidism was confirmed biochemically, and treatment with methimazole was started. As hyperthyroidism improved, a marked improvement in her urticaria was also observed. However, the patient continued to complain of amenorrhea. Endocrine evaluation, at the age 38, was consistent with premature ovarian failure. This is the first report of coexistence of GD, CSU, and POF. The genetic background of such unusual association is a specific combination of HLA. Arq Bras Endocrinol Metab. 2013;57(9):748-52 SUMÁRIO A urticária crônica idiopática, caracterizada pelo aparecimento de pápulas espontâneas e persistentes por pelo menos seis semanas, tem sido associada a doenças autoimunes. Apresentamos aqui o caso da associação incomum entre urticária crônica idiopática, doença de Graves e falência ovariana prematura. Foram conduzidos estudos de tipagem HLA. Uma mulher de 36 anos apresentou sinais e sintomas de hipertireoidismo por três meses. No mesmo período, a paciente queixou-se do aparecimento de pápulas urticariformes generalizadas que coçavam intensamente e não eram responsivas ao tratamento com anti-histamínicos. O hipertireoidismo foi confirmado bioquimicamente, e o tratamento com metimazol foi iniciado. Assim que os valores hormonais se normalizaram, observou-se uma melhoria significativa do quadro de urticária. No entanto, a paciente continuou a apresentar amenorreia. A avaliação endocrinológica, com a idade de 38 anos, mostrou falência ovariana prematura. Este é o primeiro caso de associação entre doença de Graves, urticária idiopática crônica e falência ovariana prematura. A base genética dessa associação incomum é representada por combinações específicas de haplótipos HLA. Arq Bras Endocrinol Metab. 2013;57(9):748-52

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HLA Status in Patients with Chronic Spontaneous Urticaria

Cited by 21 publications

References 30 publications

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Molecular Genetic Mechanisms of Chronic Urticaria

The unusual association of Graves' disease, chronic spontaneous urticaria, and premature ovarian failure: report of a case and HLA haplotype characterization

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