<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia
Celiac disease (CD) is an autoimmune chronic inflammatory disease occurring in genetically predisposed individuals in response to the intake of gluten. Clinical presentation can be heterogeneous. Iron-deficient anemia (IDA) is one of the most common extra-intestinal manifestations of CD. Although ID...
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doaj-ee6900d3f1824e44ab9b6de1fb78c98f2021-08-26T14:10:55ZengMDPI AGNutrients2072-66432021-08-01132782278210.3390/nu13082782<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and AnemiaKlaudia Urbaszek0Natalia Drabińska1Anna Szaflarska-Popławska2Elżbieta Jarocka-Cyrta3Department of Pediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Collegium Medicum, University of Warmia and Mazury, Żołnierska 18A Str., 10-561 Olsztyn, PolandInstitute of Animal Reproduction and Food Research of Polish Academy of Sciences, Tuwima 10 Str., 10-748 Olsztyn, PolandLaboratory for Pediatric Endoscopy and Gastrointestinal Function Testing, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, Jagiellonska 13-15, 85-067 Bydgoszcz, PolandDepartment of Pediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Collegium Medicum, University of Warmia and Mazury, Żołnierska 18A Str., 10-561 Olsztyn, PolandCeliac disease (CD) is an autoimmune chronic inflammatory disease occurring in genetically predisposed individuals in response to the intake of gluten. Clinical presentation can be heterogeneous. Iron-deficient anemia (IDA) is one of the most common extra-intestinal manifestations of CD. Although IDA usually reverts with a gluten-free diet (GFD), some patients show persistent IDA, the mechanisms of which are poorly understood. Recent studies suggest an association between the rs855791 polymorphism in the <i>TMPRSS6</i> gene and persistent IDA in adults with CD. The current study aimed to assess the potential link between rs855791 and persistent IDA in pediatric patients with CD. The study included 106 children diagnosed with CD between 2015 and 2019. Clinical and blood parameters (including blood count, serum iron) were collected at diagnosis and after ≥12 months of GFD, and the rs855791 genotype was assessed for each patient. IDA was present at diagnosis in 25 patients (23.6%); only three (3%) had persistent IDA after GFD. The prevalence of rs855791 genotypes was 9% (<i>n</i> = 10) for TT, 53% (<i>n</i> = 56) for CT, and 38% (<i>n</i> = 40) for CC. There was a tendency toward a higher proportion of the T allele in patients with IDA and lower hemoglobin in the TT genotype but without statistical significance. An association between rs855791 and persistent IDA was not observed. These findings suggest that persistent IDA is uncommon in pediatric patients with CD. The prevalence of rs855791 in children with CD is reported for the first time.https://www.mdpi.com/2072-6643/13/8/2782celiac diseaseanemiairon metabolismgluten-free dietrs855791<i>TMPRSS6</i> |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Klaudia Urbaszek Natalia Drabińska Anna Szaflarska-Popławska Elżbieta Jarocka-Cyrta |
spellingShingle |
Klaudia Urbaszek Natalia Drabińska Anna Szaflarska-Popławska Elżbieta Jarocka-Cyrta <i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia Nutrients celiac disease anemia iron metabolism gluten-free diet rs855791 <i>TMPRSS6</i> |
author_facet |
Klaudia Urbaszek Natalia Drabińska Anna Szaflarska-Popławska Elżbieta Jarocka-Cyrta |
author_sort |
Klaudia Urbaszek |
title |
<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia |
title_short |
<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia |
title_full |
<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia |
title_fullStr |
<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia |
title_full_unstemmed |
<i>TMPRSS6</i> rs855791 Polymorphism Status in Children with Celiac Disease and Anemia |
title_sort |
<i>tmprss6</i> rs855791 polymorphism status in children with celiac disease and anemia |
publisher |
MDPI AG |
series |
Nutrients |
issn |
2072-6643 |
publishDate |
2021-08-01 |
description |
Celiac disease (CD) is an autoimmune chronic inflammatory disease occurring in genetically predisposed individuals in response to the intake of gluten. Clinical presentation can be heterogeneous. Iron-deficient anemia (IDA) is one of the most common extra-intestinal manifestations of CD. Although IDA usually reverts with a gluten-free diet (GFD), some patients show persistent IDA, the mechanisms of which are poorly understood. Recent studies suggest an association between the rs855791 polymorphism in the <i>TMPRSS6</i> gene and persistent IDA in adults with CD. The current study aimed to assess the potential link between rs855791 and persistent IDA in pediatric patients with CD. The study included 106 children diagnosed with CD between 2015 and 2019. Clinical and blood parameters (including blood count, serum iron) were collected at diagnosis and after ≥12 months of GFD, and the rs855791 genotype was assessed for each patient. IDA was present at diagnosis in 25 patients (23.6%); only three (3%) had persistent IDA after GFD. The prevalence of rs855791 genotypes was 9% (<i>n</i> = 10) for TT, 53% (<i>n</i> = 56) for CT, and 38% (<i>n</i> = 40) for CC. There was a tendency toward a higher proportion of the T allele in patients with IDA and lower hemoglobin in the TT genotype but without statistical significance. An association between rs855791 and persistent IDA was not observed. These findings suggest that persistent IDA is uncommon in pediatric patients with CD. The prevalence of rs855791 in children with CD is reported for the first time. |
topic |
celiac disease anemia iron metabolism gluten-free diet rs855791 <i>TMPRSS6</i> |
url |
https://www.mdpi.com/2072-6643/13/8/2782 |
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