Presence of high-risk HLA genotype is the most important individual risk factor for coeliac disease among at-risk relatives

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Paavola , S , Lindfors , K , Kivelä , L , Cerqueira , J , Huhtala , H , Saavalainen , P , Tauschi , R , Kaukinen , K & Kurppa , K 2021 , ' Presence of high-risk HLA genotype is the most important individual risk factor for coeliac disease among at-risk relatives ' , Alimentary Pharmacology & Therapeutics , vol. 54 , no. 6 , pp. 805-813 . https://doi.org/10.1111/apt.16534

Title: Presence of high-risk HLA genotype is the most important individual risk factor for coeliac disease among at-risk relatives
Author: Paavola, Saana; Lindfors, Katri; Kivelä, Laura; Cerqueira, Juliana; Huhtala, Heini; Saavalainen, Päivi; Tauschi, Riku; Kaukinen, Katri; Kurppa, Kalle
Contributor organization: TRIMM - Translational Immunology Research Program
Immunomics
Department of Medical and Clinical Genetics
Date: 2021-09
Language: eng
Number of pages: 9
Belongs to series: Alimentary Pharmacology & Therapeutics
ISSN: 0269-2813
DOI: https://doi.org/10.1111/apt.16534
URI: http://hdl.handle.net/10138/334449
Abstract: Background Family screening has been advocated as a means to reduce the major underdiagnosis of coeliac disease. However, the precise risk of the disease in relatives and the impact of patient- and relative-related individual factors remain obscure. Aims To investigate the individual risk of coeliac disease among patients' relatives. Methods Altogether 2943 relatives of 624 index patients were assessed for the presence of previous coeliac disease diagnosis, or were screened for the disease. Coeliac disease-associated human leucocyte antigen (HLA) genotype was determined from all participants. The association between individual factors and new screening positivity was assessed by logistic regression. Results There were 229 previously diagnosed non-index relatives with coeliac disease and 2714 non-affected (2067 first-degree, 647 more distant) relatives. Of these 2714 relatives, 129 (4.8%) were screening-positive (first-degree 5.1%, second-degree 3.6%, more distant 3.5%). The combined prevalence of the previously diagnosed and now detected cases in relatives was 12.2% (6.3% clinically detected, 5.9% screen-detected). In univariate analysis, age
Subject: PEDIATRIC GASTROENTEROLOGY
UNITED-STATES
PREVALENCE
POPULATION
DIAGNOSIS
SYMPTOMS
SEROLOGY
CHILDREN
GUIDELINES
ANTIBODIES
3121 General medicine, internal medicine and other clinical medicine
317 Pharmacy
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: publishedVersion


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