<i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population
Asthma is a complex and heterogeneous disease, caused by the interaction between genetic and environmental factors with a predominant allergic background in children. The role of specific genes in asthmatic bronchial reactivity is still not clear, probably because of the many common pathways shared...
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MDPI AG
2022-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/214 |
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| author | Daria Messelodi Cristina Giuliani Francesca Cipriani Silvia Armuzzi Emanuela di Palmo Paolo Garagnani Luca Bertelli Annalisa Astolfi Donata Luiselli Giampaolo Ricci Andrea Pession |
| author_facet | Daria Messelodi Cristina Giuliani Francesca Cipriani Silvia Armuzzi Emanuela di Palmo Paolo Garagnani Luca Bertelli Annalisa Astolfi Donata Luiselli Giampaolo Ricci Andrea Pession |
| author_sort | Daria Messelodi |
| collection | DOAJ |
| description | Asthma is a complex and heterogeneous disease, caused by the interaction between genetic and environmental factors with a predominant allergic background in children. The role of specific genes in asthmatic bronchial reactivity is still not clear, probably because of the many common pathways shared with other allergic disorders. This study is focused on 11 SNPs possibly related to asthma that were previously identified in a GWAS study. The genetic variability of these SNPs has been analysed in a population of 773 Italian healthy controls, and the presence of an association between the polymorphisms and the asthma onset was evaluated performing genotyping analysis on 108 children affected with asthma compared with the controls. Moreover, a pool of 171 patients with only allergic rhinoconjunctivitis has been included in the case–control analysis. The comparison of allele frequencies in asthmatic patients versus healthy controls identified two SNPs—rs1162394 (<i>p</i> = 0.019) and rs25681 (<i>p</i> = 0.044)—associated with the asthmatic condition, which were not differentially distributed in the rhinoconjunctivitis group. The rs25681 SNP, together with three other SNPs, also resulted in not being homogenously distributed in the Italian population. The significantly higher frequency of the rs25681 and rs1162394 SNPs (located, respectively, in the <i>C5</i> and <i>SRGAP3</i> genes) in the asthmatic population suggests an involvement of these genes in the asthmatic context, playing a role in increasing the inflammatory condition that may influence asthma onset and clinical course. |
| first_indexed | 2024-03-09T21:52:42Z |
| format | Article |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:52:42Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-4fb91aabb3bf434f827673fb325b56632023-11-23T20:03:23ZengMDPI AGGenes2073-44252022-01-0113221410.3390/genes13020214<i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian PopulationDaria Messelodi0Cristina Giuliani1Francesca Cipriani2Silvia Armuzzi3Emanuela di Palmo4Paolo Garagnani5Luca Bertelli6Annalisa Astolfi7Donata Luiselli8Giampaolo Ricci9Andrea Pession10Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, ItalyLaboratory of Molecular Anthropology, Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, 40126 Bologna, ItalyPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyInstitute of Hematology “Seràgnoli”, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDepartment of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40138 Bologna, ItalyPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDepartment of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40138 Bologna, ItalyLaboratory of Ancient DNA (aDNALab), Department of Cultural Heritage (DBC), Ravenna Campus, University of Bologna, 40126 Bologna, ItalyDepartment of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, ItalyPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyAsthma is a complex and heterogeneous disease, caused by the interaction between genetic and environmental factors with a predominant allergic background in children. The role of specific genes in asthmatic bronchial reactivity is still not clear, probably because of the many common pathways shared with other allergic disorders. This study is focused on 11 SNPs possibly related to asthma that were previously identified in a GWAS study. The genetic variability of these SNPs has been analysed in a population of 773 Italian healthy controls, and the presence of an association between the polymorphisms and the asthma onset was evaluated performing genotyping analysis on 108 children affected with asthma compared with the controls. Moreover, a pool of 171 patients with only allergic rhinoconjunctivitis has been included in the case–control analysis. The comparison of allele frequencies in asthmatic patients versus healthy controls identified two SNPs—rs1162394 (<i>p</i> = 0.019) and rs25681 (<i>p</i> = 0.044)—associated with the asthmatic condition, which were not differentially distributed in the rhinoconjunctivitis group. The rs25681 SNP, together with three other SNPs, also resulted in not being homogenously distributed in the Italian population. The significantly higher frequency of the rs25681 and rs1162394 SNPs (located, respectively, in the <i>C5</i> and <i>SRGAP3</i> genes) in the asthmatic population suggests an involvement of these genes in the asthmatic context, playing a role in increasing the inflammatory condition that may influence asthma onset and clinical course.https://www.mdpi.com/2073-4425/13/2/214allergyasthmaallergic rhinoconjunctivitissingle nucleotide polymorphismallelic distribution |
| spellingShingle | Daria Messelodi Cristina Giuliani Francesca Cipriani Silvia Armuzzi Emanuela di Palmo Paolo Garagnani Luca Bertelli Annalisa Astolfi Donata Luiselli Giampaolo Ricci Andrea Pession <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population Genes allergy asthma allergic rhinoconjunctivitis single nucleotide polymorphism allelic distribution |
| title | <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population |
| title_full | <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population |
| title_fullStr | <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population |
| title_full_unstemmed | <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population |
| title_short | <i>C5</i> and <i>SRGAP3</i> Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population |
| title_sort | i c5 i and i srgap3 i polymorphisms are linked to paediatric allergic asthma in the italian population |
| topic | allergy asthma allergic rhinoconjunctivitis single nucleotide polymorphism allelic distribution |
| url | https://www.mdpi.com/2073-4425/13/2/214 |
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