Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study

Deleted in malignant brain tumours 1 protein (DMBT1) and surfactant protein D (SFTPD) are antimicrobial peptides previously linked to inflammatory bowel disease (IBD) susceptibility. This study attempts to link the most potential IBD-associated polymorphisms in DMBT1 and SFTPD with the disease sever...

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Autores principales: Aleksandra Glapa-Nowak, Mariusz Szczepanik, Aleksandra Banaszkiewicz, Barbara Iwańczak, Jarosław Kwiecień, Anna Szaflarska-Popławska, Urszula Grzybowska-Chlebowczyk, Marcin Osiecki, Jarosław Kierkuś, Marcin Banasiuk, Tomasz Banasiewicz, Jens Madsen, Jarosław Walkowiak
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Publicado: MDPI AG 2021
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spelling oai:doaj.org-article:290413af9d00408a85fd12502580e4662021-11-25T17:13:48ZGenetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study10.3390/children81109462227-9067https://doaj.org/article/290413af9d00408a85fd12502580e4662021-10-01T00:00:00Zhttps://www.mdpi.com/2227-9067/8/11/946https://doaj.org/toc/2227-9067Deleted in malignant brain tumours 1 protein (DMBT1) and surfactant protein D (SFTPD) are antimicrobial peptides previously linked to inflammatory bowel disease (IBD) susceptibility. This study attempts to link the most potential IBD-associated polymorphisms in DMBT1 and SFTPD with the disease severity in children. A total of 406 IBD patients (Crohn’s disease (CD) <i>n</i> = 214 and ulcerative colitis (UC) <i>n</i> = 192) were genotyped using hydrolysis probe assay. Clinical expression was described by disease activity scales, albumin and C-reactive protein levels, localisation and behaviour (Paris classification), systemic steroid, immunosuppressive, biological, and surgical treatment, number of exacerbation-caused hospitalisations, relapses and nutritional status. IBD patients with the risk genotype (AA) in DMBT1 rs2981804 had more frequent biological treatment (AA: vs. AG/GG; <i>p</i> = 0.012), concomitant diseases (AA vs. AG vs. GG; <i>p</i> = 0.015) and cutaneous manifestations (AA vs. AG/GG, <i>p</i> = 0.008). In UC, rs2981804 genotypes might be linked with albumin concentrations at diagnosis (AA vs. AG vs. GG; <i>p</i> = 0.009). In CD, DMBT1 rs2981745 was significantly associated with the number of severe relapses per year of disease (<i>p</i> = 0.020) and time-to-immunosuppression (<i>p</i> = 0.045). SFTPD was seemingly found to be associated with age at first immunosuppression in IBD (CC vs. CT vs. TT; <i>p</i> = 0.048). In conclusion, selected polymorphisms of DMBT1 and SFTPD might be associated with some disease severity measures in children with IBD. However, the magnitude of associations and their clinical relevance might be minor.Aleksandra Glapa-NowakMariusz SzczepanikAleksandra BanaszkiewiczBarbara IwańczakJarosław KwiecieńAnna Szaflarska-PopławskaUrszula Grzybowska-ChlebowczykMarcin OsieckiJarosław KierkuśMarcin BanasiukTomasz BanasiewiczJens MadsenJarosław WalkowiakMDPI AGarticleCrohn’s diseaseexacerbationhospitalisationimmunosuppressionulcerative colitispolymorphismPediatricsRJ1-570ENChildren, Vol 8, Iss 946, p 946 (2021)
institution DOAJ
collection DOAJ
language EN
topic Crohn’s disease
exacerbation
hospitalisation
immunosuppression
ulcerative colitis
polymorphism
Pediatrics
RJ1-570
spellingShingle Crohn’s disease
exacerbation
hospitalisation
immunosuppression
ulcerative colitis
polymorphism
Pediatrics
RJ1-570
Aleksandra Glapa-Nowak
Mariusz Szczepanik
Aleksandra Banaszkiewicz
Barbara Iwańczak
Jarosław Kwiecień
Anna Szaflarska-Popławska
Urszula Grzybowska-Chlebowczyk
Marcin Osiecki
Jarosław Kierkuś
Marcin Banasiuk
Tomasz Banasiewicz
Jens Madsen
Jarosław Walkowiak
Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
description Deleted in malignant brain tumours 1 protein (DMBT1) and surfactant protein D (SFTPD) are antimicrobial peptides previously linked to inflammatory bowel disease (IBD) susceptibility. This study attempts to link the most potential IBD-associated polymorphisms in DMBT1 and SFTPD with the disease severity in children. A total of 406 IBD patients (Crohn’s disease (CD) <i>n</i> = 214 and ulcerative colitis (UC) <i>n</i> = 192) were genotyped using hydrolysis probe assay. Clinical expression was described by disease activity scales, albumin and C-reactive protein levels, localisation and behaviour (Paris classification), systemic steroid, immunosuppressive, biological, and surgical treatment, number of exacerbation-caused hospitalisations, relapses and nutritional status. IBD patients with the risk genotype (AA) in DMBT1 rs2981804 had more frequent biological treatment (AA: vs. AG/GG; <i>p</i> = 0.012), concomitant diseases (AA vs. AG vs. GG; <i>p</i> = 0.015) and cutaneous manifestations (AA vs. AG/GG, <i>p</i> = 0.008). In UC, rs2981804 genotypes might be linked with albumin concentrations at diagnosis (AA vs. AG vs. GG; <i>p</i> = 0.009). In CD, DMBT1 rs2981745 was significantly associated with the number of severe relapses per year of disease (<i>p</i> = 0.020) and time-to-immunosuppression (<i>p</i> = 0.045). SFTPD was seemingly found to be associated with age at first immunosuppression in IBD (CC vs. CT vs. TT; <i>p</i> = 0.048). In conclusion, selected polymorphisms of DMBT1 and SFTPD might be associated with some disease severity measures in children with IBD. However, the magnitude of associations and their clinical relevance might be minor.
format article
author Aleksandra Glapa-Nowak
Mariusz Szczepanik
Aleksandra Banaszkiewicz
Barbara Iwańczak
Jarosław Kwiecień
Anna Szaflarska-Popławska
Urszula Grzybowska-Chlebowczyk
Marcin Osiecki
Jarosław Kierkuś
Marcin Banasiuk
Tomasz Banasiewicz
Jens Madsen
Jarosław Walkowiak
author_facet Aleksandra Glapa-Nowak
Mariusz Szczepanik
Aleksandra Banaszkiewicz
Barbara Iwańczak
Jarosław Kwiecień
Anna Szaflarska-Popławska
Urszula Grzybowska-Chlebowczyk
Marcin Osiecki
Jarosław Kierkuś
Marcin Banasiuk
Tomasz Banasiewicz
Jens Madsen
Jarosław Walkowiak
author_sort Aleksandra Glapa-Nowak
title Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
title_short Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
title_full Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
title_fullStr Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
title_full_unstemmed Genetic Variants of DMBT1 and SFTPD and Disease Severity in Paediatric Inflammatory Bowel Disease—A Polish Population-Based Study
title_sort genetic variants of dmbt1 and sftpd and disease severity in paediatric inflammatory bowel disease—a polish population-based study
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/290413af9d00408a85fd12502580e466
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