Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese

Gao, Yunbo; Li, Jingyun; Zhang, Yuan; Zhang, Luo

doi:10.1186/s13223-020-0411-9

Cited by 10 publications

(6 citation statements)

References 43 publications

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“…Among them, rs62026376 C allele was observed to be associated with an increased risk of hay fever asthma. In addition, Gao et al noticed that CLEC16A rs7203459 was a specific susceptibility locus of AR in the Han Chinese population (Gao et al, 2020). In our research, we also observed the significant association between CLEC16A SNPs (rs2286973, rs887864, rs12935657, rs11645657 and rs36045143) and AR risk.…”

Section: Discussionsupporting

confidence: 82%

CLEC16A variants conferred a decreased risk to allergic rhinitis in the Chinese population

Niu

Wang

et al. 2022

Front. Genet.

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Background: Allergic rhinitis (AR) is a chronic respiratory disease. Hereditary factors played a key role in the pathogenesis of the AR. This study investigated the association between CLEC16A variants and AR risk in the Chinese population.Methods: We applied Agena MassARRAY technology platform to genotype five single nucleotide polymorphisms (SNPs) located in CLEC16A in 1004 controls and 995 cases. The association between CLEC16A SNPs (rs2286973, rs887864, rs12935657, rs11645657 and rs36045143) and AR risk were calculated by logistic regression analysis, with odds ratio (OR) and 95% confidence interval (CI). False-positive report probability (FPRP) was also used to assess the significant results to reduce false positives. Multifactor dimensionality reduction (MDR) was completed to assess the interaction between CLEC16A variants to predict AR risk.Results: Totally, CLEC16A (rs887864, rs12935657, rs2286973, rs11645657 and rs36045143) were significantly associated with AR risk. Therein, rs2286973, rs11645657 and rs36045143 were related to a decreased risk of AR in the people ≤ 43 years old, females and the people with BMI≤24, respectively. And rs887864 and rs12935657 were also associated with a decreased susceptibility of AR in the people >43 years old. Meanwhile, in the results of region stratification, rs887864 conferred a reduced risk to AR in the people from loess hilly area.Conclusion:CLEC16A variants conferred a decreased risk to AR in the Chinese population.

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Section: Discussionsupporting

confidence: 82%

CLEC16A variants conferred a decreased risk to allergic rhinitis in the Chinese population

Niu

Wang

et al. 2022

Front. Genet.

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“…Studies of GWAS data combined with functional annotations and quantitative trait loci (QTL) have sought to strengthen their context-specific relevance. In addition to replicating previously known loci, new candidate genes including DGKQ, SLC26A1 , and IDUA genes, as well as variants of genes encoding transcription factors like NF-KB , cJUN , STAT family, ERG1 , ELF1 , EBF1 , and the GATA family have been identified ( 32 – 35 ). Atopy-associated GWAS have identified multiple relevant biological pathways, including autoimmune and inflammatory response pathways, thereby providing insights into the underlying heritable risk ( 31 , 36 ).…”

Section: Gwas Discovery Of Asthma Associated Genetic Linkagesmentioning

confidence: 90%

Asthma and the Missing Heritability Problem: Necessity for Multiomics Approaches in Determining Accurate Risk Profiles

et al. 2022

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Asthma is ranked among the most common chronic conditions and has become a significant public health issue due to the recent and rapid increase in its prevalence. Investigations into the underlying genetic factors predict a heritable component for its incidence, estimated between 35% and 90% of causation. Despite the application of large-scale genome-wide association studies (GWAS) and admixture mapping approaches, the proportion of variants identified accounts for less than 15% of the observed heritability of the disease. The discrepancy between the predicted heritable component of disease and the proportion of heritability mapped to the currently identified susceptibility loci has been termed the ‘missing heritability problem.’ Here, we examine recent studies involving both the analysis of genetically encoded features that contribute to asthma and also the role of non-encoded heritable characteristics, including epigenetic, environmental, and developmental aspects of disease. The importance of vertical maternal microbiome transfer and the influence of maternal immune factors on fetal conditioning in the inheritance of disease are also discussed. In order to highlight the broad array of biological inputs that contribute to the sum of heritable risk factors associated with allergic disease incidence that, together, contribute to the induction of a pro-atopic state. Currently, there is a need to develop in-depth models of asthma risk factors to overcome the limitations encountered in the interpretation of GWAS results in isolation, which have resulted in the missing heritability problem. Hence, multiomics analyses need to be established considering genetic, epigenetic, and functional data to create a true systems biology-based approach for analyzing the regulatory pathways that underlie the inheritance of asthma and to develop accurate risk profiles for disease.

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“…signal transduction and apoptosis, and it has been associated with asthma and allergy [120–122 ]. In recent candidate gene analysis in Han Chinese population, it has been shown to associate with AR [123 ]. In vitro‐ studies show the involvement of WDR36 in G q ‐coupled muscarine, bradykinin and histamine receptor signaling [124 ], all of which are important modulators of allergic reactions and asthmatic bronchoconstriction.…”

Section: Literature Reviewmentioning

confidence: 99%

Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa

Laulajainen‐Hongisto

Lyly

Hanif

et al. 2020

Clin Transl Allergy

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Genome wide association studies (GWASs) have revealed several airway disease-associated risk loci. Their role in the onset of asthma, allergic rhinitis (AR) or chronic rhinosinusitis (CRS), however, is not yet fully understood. The aim of this review is to evaluate the airway relevance of loci and genes identified in GWAS studies. GWASs were searched from databases, and a list of loci associating significantly (p < 10–8) with asthma, AR and CRS was created. This yielded a total of 267 significantly asthma/AR–associated loci from 31 GWASs. No significant CRS -associated loci were found in this search. A total of 170 protein coding genes were connected to these loci. Of these, 76/170 (44%) showed bronchial epithelial protein expression in stained microscopic figures of Human Protein Atlas (HPA), and 61/170 (36%) had a literature report of having airway epithelial function. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) annotation analyses were performed, and 19 functional protein categories were found as significantly (p < 0.05) enriched among these genes. These were related to cytokine production, cell activation and adaptive immune response, and all were strongly connected in network analysis. We also identified 15 protein pathways that were significantly (p < 0.05) enriched in these genes, related to T-helper cell differentiation, virus infection, JAK-STAT signaling pathway, and asthma. A third of GWAS-level risk loci genes of asthma or AR seemed to have airway epithelial functions according to our database and literature searches. In addition, many of the risk loci genes were immunity related. Some risk loci genes also related to metabolism, neuro-musculoskeletal or other functions. Functions overlapped and formed a strong network in our pathway analyses and are worth future studies of biomarker and therapeutics.

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Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese

Cited by 10 publications

References 43 publications

CLEC16A variants conferred a decreased risk to allergic rhinitis in the Chinese population

CLEC16A variants conferred a decreased risk to allergic rhinitis in the Chinese population

Asthma and the Missing Heritability Problem: Necessity for Multiomics Approaches in Determining Accurate Risk Profiles

Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa

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