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HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease.

Abstract

OBJECTIVE

Coeliac disease (CD) is a common disease with a strong heredity. About 10-20% of 1st-degree relatives of probands develop CD. Relatives should be screened for CD, because if not treated, CD exposes patients to numerous complications. The heterogeneity of symptoms and the lifetime-spanning risk of CD render the timing of CD antibody and/or gastroscopy screenings difficult. As CD susceptibility has been shown to be strongly associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) and DRB1*04 (associated with the DQ8 heterodimer), our aim was to investigate whether HLA genotyping might be useful in the identification of 1st-degree relatives of CD patients who do not need further screening for CD.

MATERIAL AND METHODS

The study comprised 54 Finnish CD families including 54 CD probands and 382 living 1st-degree relatives. All subjects who were willing to participate were screened for CD (duodenal and skin biopsies; endomysial, reticulin and gliadin antibodies). The DQA1*0501, DQB1*0201 and DRB1*04 allele frequencies of CD patients and the 1st-degree relatives were determined.

RESULTS

Altogether 17.6% (5.9% of the parents, 15.7% of the siblings, 25.8% of the offspring) of the investigated 1st-degree relatives (n = 245) did not carry any of the alleles studied. All of the CD patients (n = 136) with the exception of one (0.7%) carried at least one of the alleles investigated.

CONCLUSIONS

By using the HLA genotyping a considerable proportion of 1st-degree relatives of CD probands could be excluded from further screening for CD.

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  • Authors+Show Affiliations

    ,

    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland. hannele.karinen@fimnet.fi

    , , , , , , ,

    Source

    Scandinavian journal of gastroenterology 41:11 2006 Nov pg 1299-304

    MeSH

    Adolescent
    Adult
    Aged
    Alleles
    Celiac Disease
    Child
    Child, Preschool
    Family
    Female
    Finland
    Genetic Predisposition to Disease
    Genetic Testing
    Genotype
    HLA Antigens
    HLA-DQ Antigens
    HLA-DR Antigens
    HLA-DRB1 Chains
    Humans
    Male
    Middle Aged
    Pedigree
    Retrospective Studies
    Risk Assessment

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    17060123

    Citation

    Karinen, Hannele, et al. "HLA Genotyping Is Useful in the Evaluation of the Risk for Coeliac Disease in the 1st-degree Relatives of Patients With Coeliac Disease." Scandinavian Journal of Gastroenterology, vol. 41, no. 11, 2006, pp. 1299-304.
    Karinen H, Kärkkäinen P, Pihlajamäki J, et al. HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease. Scand J Gastroenterol. 2006;41(11):1299-304.
    Karinen, H., Kärkkäinen, P., Pihlajamäki, J., Janatuinen, E., Heikkinen, M., Julkunen, R., ... Laakso, M. (2006). HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease. Scandinavian Journal of Gastroenterology, 41(11), pp. 1299-304.
    Karinen H, et al. HLA Genotyping Is Useful in the Evaluation of the Risk for Coeliac Disease in the 1st-degree Relatives of Patients With Coeliac Disease. Scand J Gastroenterol. 2006;41(11):1299-304. PubMed PMID: 17060123.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease. AU - Karinen,Hannele, AU - Kärkkäinen,Päivi, AU - Pihlajamäki,Jussi, AU - Janatuinen,Esko, AU - Heikkinen,Markku, AU - Julkunen,Risto, AU - Kosma,Veli-Matti, AU - Naukkarinen,Anita, AU - Laakso,Markku, PY - 2006/10/25/pubmed PY - 2007/1/25/medline PY - 2006/10/25/entrez SP - 1299 EP - 304 JF - Scandinavian journal of gastroenterology JO - Scand. J. Gastroenterol. VL - 41 IS - 11 N2 - OBJECTIVE: Coeliac disease (CD) is a common disease with a strong heredity. About 10-20% of 1st-degree relatives of probands develop CD. Relatives should be screened for CD, because if not treated, CD exposes patients to numerous complications. The heterogeneity of symptoms and the lifetime-spanning risk of CD render the timing of CD antibody and/or gastroscopy screenings difficult. As CD susceptibility has been shown to be strongly associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) and DRB1*04 (associated with the DQ8 heterodimer), our aim was to investigate whether HLA genotyping might be useful in the identification of 1st-degree relatives of CD patients who do not need further screening for CD. MATERIAL AND METHODS: The study comprised 54 Finnish CD families including 54 CD probands and 382 living 1st-degree relatives. All subjects who were willing to participate were screened for CD (duodenal and skin biopsies; endomysial, reticulin and gliadin antibodies). The DQA1*0501, DQB1*0201 and DRB1*04 allele frequencies of CD patients and the 1st-degree relatives were determined. RESULTS: Altogether 17.6% (5.9% of the parents, 15.7% of the siblings, 25.8% of the offspring) of the investigated 1st-degree relatives (n = 245) did not carry any of the alleles studied. All of the CD patients (n = 136) with the exception of one (0.7%) carried at least one of the alleles investigated. CONCLUSIONS: By using the HLA genotyping a considerable proportion of 1st-degree relatives of CD probands could be excluded from further screening for CD. SN - 0036-5521 UR - https://www.unboundmedicine.com/medline/citation/17060123/HLA_genotyping_is_useful_in_the_evaluation_of_the_risk_for_coeliac_disease_in_the_1st_degree_relatives_of_patients_with_coeliac_disease_ L2 - http://www.tandfonline.com/doi/full/10.1080/00365520600684548 DB - PRIME DP - Unbound Medicine ER -