The Phenotype of Celiac Disease Has Low Concordance between Siblings, Despite a Similar Distribution of HLA Haplotypes

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Kauma , S , Kaukinen , K , Huhtala , H , Kivelä , L , Pekki , H , Salmi , T , Saavalainen , P , Lindfors , K & Kurppa , K 2019 , ' The Phenotype of Celiac Disease Has Low Concordance between Siblings, Despite a Similar Distribution of HLA Haplotypes ' , Nutrients , vol. 11 , no. 2 , 479 . https://doi.org/10.3390/nu11020479

Title: The Phenotype of Celiac Disease Has Low Concordance between Siblings, Despite a Similar Distribution of HLA Haplotypes
Author: Kauma, Saana; Kaukinen, Katri; Huhtala, Heini; Kivelä, Laura; Pekki, Henna; Salmi, Teea; Saavalainen, Päivi; Lindfors, Katri; Kurppa, Kalle
Contributor organization: Immunobiology Research Program
Immunomics
Department of Medical and Clinical Genetics
Research Programs Unit
Medicum
University of Helsinki
Date: 2019-02
Language: eng
Number of pages: 10
Belongs to series: Nutrients
ISSN: 2072-6643
DOI: https://doi.org/10.3390/nu11020479
URI: http://hdl.handle.net/10138/300740
Abstract: The factors determining the presentation of celiac disease are unclear. We investigated the phenotypic concordance and the distribution of human leukocyte antigen (HLA) risk haplotypes in affected siblings. One hundred sibling pairs were included. Clinical and histological parameters and HLA haplotypes were compared between the first diagnosed indexes and their siblings. The phenotype was categorized into gastrointestinal, extra-intestinal, malabsorption/anemia, and asymptomatic. The phenotype was fully concordant in 21 pairs. The most common concordant phenotype was gastrointestinal (14 pairs). Indexes had more anemia/malabsorption and extra-intestinal symptoms than siblings (45% vs. 20%, p <0.001 and 33% vs. 12%, p <0.001, respectively). Twenty siblings and none of the indexes were asymptomatic. The indexes were more often women (81% vs. 63%, p = 0.008). They were also more often seronegative (11% vs. 0%, p = 0.03) and younger (37 vs. 43 year, p <0.001), and had more severe histopathology (total/subtotal atrophy 79% vs. 58%, p = 0.047) at diagnosis. The indexes and siblings were comparable in other disease features. Pairs with discordant presentation had similar HLA haplotypes more often than the concordant pairs. The phenotype was observed to vary markedly between siblings, with the indexes generally having a more severe presentation. HLA did not explain the differences, suggesting that non-HLA genes and environmental factors play significant roles.
Subject: celiac disease
sibling
phenotype
gluten-free diet
environmental factors
genotype
DERMATITIS-HERPETIFORMIS
MICROBIOTA COMPOSITION
GENETIC DISSECTION
LONG-TERM
FOLLOW-UP
RISK
PREVALENCE
RELATIVES
3143 Nutrition
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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