HLA class II high-resolution genotyping in Greek children with celiac disease and impact on disease susceptibility

Krini, Maro; Chouliaras, Giorgos; Kanariou, Maria; Varela, Ioanna; Spanou, Kleopatra; Panayiotou, Joanna; Roma, Elefthería; Constantinidou, Nikki

doi:10.1038/pr.2012.133

Cited by 22 publications

(16 citation statements)

References 34 publications

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“…Rosacea also exhibits abnormal proliferation of blood vessels including on the ocular conjunctiva. HLA-DQB1*02:01 has been associated with celiac disease in humans ( Krini et al, 2012 ), a condition that can have skin manifestations. Celiac disease involves the small intestine, and rosacea has been associated with conditions located in the small intestine, namely small intestinal bacterial overgrowth ( Weinstock and Steinhoff, 2013 ).…”

Section: Discussionmentioning

confidence: 99%

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Chang

Raber

et al. 2015

Journal of Investigative Dermatology

148

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Rosacea is a common, chronic skin disease that is currently incurable. Although environmental factors influence rosacea, the genetic basis of rosacea is not established. In this genome-wide association study, a discovery group of 22,952 individuals (2,618 rosacea cases and 20,334 controls) was analyzed, leading to identification of two significant single-nucleotide polymorphisms (SNPs) associated with rosacea, one of which replicated in a new group of 29,481 individuals (3,205 rosacea cases and 26,262 controls). The confirmed SNP, rs763035 (P=8.0 × 10−11 discovery group; P=0.00031 replication group), is intergenic between HLA-DRA and BTNL2. Exploratory immunohistochemical analysis of HLA-DRA and BTNL2 expression in papulopustular rosacea lesions from six individuals, including one with the rs763035 variant, revealed staining in the perifollicular inflammatory infiltrate of rosacea for both proteins. In addition, three HLA alleles, all MHC class II proteins, were significantly associated with rosacea in the discovery group and confirmed in the replication group: HLA-DRB1*03:01 (P=1.0 × 10−8 discovery group; P=4.4 × 10−6 replication group), HLA-DQB1*02:01 (P=1.3 × 10−8 discovery group; P=7.2 × 10−6 replication group), and HLA-DQA1*05:01 (P=1.4 × 10−8 discovery group; P=7.6 × 10−6 replication group). Collectively, the gene variants identified in this study support the concept of a genetic component for rosacea, and provide candidate targets for future studies to better understand and treat rosacea.

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Section: Discussionmentioning

confidence: 99%

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Chang

Raber

et al. 2015

Journal of Investigative Dermatology

148

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“…This might be attributed to the varied genetic background of these patients; however, the condition that both Uyghur and Han patients live in the same region in China allows for the study of both the genetic and environmental factors that may be involved in the disease. A number of HLA alleles have been shown to be associated with various immune‐related diseases such as celiac disease, longitudinally extensive transverse myelitis and Behçet's disease . The HLA class II genes, which have been reported to be associated with IBD, are potential candidates because they play an important role in peptide binding and T‐cell receptor repertoire determination .…”

Section: Discussionmentioning

confidence: 99%

Association of HLA‐DRB1 alleles and anti‐neutrophil cytoplasmic antibodies in Han and Uyghur patients with ulcerative colitis in China

Gao

Ayinuer

et al. 2014

J of Digest Diseases

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“…Finally, a total of 13 studies were deemed eligible for inclusion and were submitted to data extraction and analysis. Studies were published between 1994 and 2016; 10 studies were case-control and three cohort studies (22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34) Figure S1 online.…”

Section: Study Selection and Quality Of Studiesmentioning

confidence: 99%

HLA-DQ genetics in children with celiac disease: a meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains

et al. 2018

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BackgroundSpecific HLA-DQ genes have been recognized as necessary - but not sufficient - factors for the occurrence of Celiac Disease (CD). Through a meta-analysis, evaluating the distribution of CD-related HLA genotypes in children, we aimed at providing insights for a potential widened screening strategy.MethodsAfter a systematic search on the association between class II HLA genes and CD in children, 46 publications were obtained and assessed for eligibility. A total of 13 eligible studies were submitted to data extraction and analysis (10 case-control studies and 3 cohort studies). Case-control studies collectively enrolled 740 CD patients and 943 controls.ResultsIn the population-stratified analysis, the following alleles conferred a significantly increased risk for CD: HLA-DQB1*02 (odds ratio [OR]=10.28) and HLA-DQB1*03:02 (OR=2.24). By drafting a risk gradient to develop CD according to HLA genetic background, the highest risk is confirmed to exist for DQ2/DQ2 homozygous subjects, regardless of the ethnicities (OR=5.4). Actually, the genotype DQ2/β2 showed basically the same risk (OR=5.3). Indeed, no differences have been found in CD risk between DQ2/β2 and DQ2/DQ2, as well as between DQ8/β2 and DQ2/DQ8, and between β2/DQX and DQ2/X.ConclusionThe HLA-DQB1*02:01 allele is present in more than 90% CD children. In the perspective of a widened pediatric population screening for CD, a double-step process might be suggested: HLA-DQB1*02:01 might be investigated first and, only if this result is positive, children might be candidate for a prospective serologic screening, as a second step.

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HLA class II high-resolution genotyping in Greek children with celiac disease and impact on disease susceptibility

Abstract: This study confirms the existing data and provides additional evidence supporting a strong genetic predisposition for CD associated with the class II alleles DQB102 and DQA105 encoding the serological specificity DQ2.

Cited by 22 publications

References 34 publications

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Association of HLA‐DRB1 alleles and anti‐neutrophil cytoplasmic antibodies in Han and Uyghur patients with ulcerative colitis in China

HLA-DQ genetics in children with celiac disease: a meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains

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HLA class II high-resolution genotyping in Greek children with celiac disease and impact on disease susceptibility

Abstract: This study confirms the existing data and provides additional evidence supporting a strong genetic predisposition for CD associated with the class II alleles DQB1*02 and DQA1*05 encoding the serological specificity DQ2.

Cited by 22 publications

References 34 publications

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Association of HLA‐DRB1 alleles and anti‐neutrophil cytoplasmic antibodies in Han and Uyghur patients with ulcerative colitis in China

HLA-DQ genetics in children with celiac disease: a meta-analysis suggesting a two-step genetic screening procedure starting with HLA-DQ β chains

Contact Info

Product

Resources

About

Abstract: This study confirms the existing data and provides additional evidence supporting a strong genetic predisposition for CD associated with the class II alleles DQB102 and DQA105 encoding the serological specificity DQ2.