Tags

Type your tag names separated by a space and hit enter

Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease.
Scand J Gastroenterol. 2006 Feb; 41(2):191-9.SJ

Abstract

OBJECTIVE

Coeliac disease (CD) susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201. This HLA-associated risk has been estimated to account for 29-40% of the genetic component of CD. Conflicting data have been published on the gene dose effect of these HLA alleles on the risk and severity of CD. In this study the aim was to investigate the association between the number of HLA risk alleles and the severity of CD.

MATERIAL AND METHODS

Fifty-four Finnish CD families, including 144 CD patients mainly diagnosed in adulthood (94.4%), were enrolled in the study. The association between the number of DQA1*0501 and DQB1*0201 alleles and villous atrophy, symptoms and laboratory parameters at the time of diagnosis, and the association with villous atrophy after one year of treatment on a gluten-free diet were studied.

RESULTS

The homozygosity for the DQB1*0201 allele was associated with a more severe form of CD assessed by more severe villous atrophy (p=0.011), younger age (p=0.036), more severe diarrhoea (p=0.048) and a lower level of blood haemoglobin at the time of diagnosis (p=0.010). Furthermore, the homozygosity for the DQB1*0201 allele was associated with a slower recovery of villous atrophy after a gluten-free diet (p=0.041). In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD.

CONCLUSIONS

Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet.

Authors+Show Affiliations

Department of Medicine, University of Kuopio, Kuopio, Finland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

16484124

Citation

Karinen, Hannele, et al. "Gene Dose Effect of the DQB1*0201 Allele Contributes to Severity of Coeliac Disease." Scandinavian Journal of Gastroenterology, vol. 41, no. 2, 2006, pp. 191-9.
Karinen H, Kärkkäinen P, Pihlajamäki J, et al. Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease. Scand J Gastroenterol. 2006;41(2):191-9.
Karinen, H., Kärkkäinen, P., Pihlajamäki, J., Janatuinen, E., Heikkinen, M., Julkunen, R., Kosma, V. M., Naukkarinen, A., & Laakso, M. (2006). Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease. Scandinavian Journal of Gastroenterology, 41(2), 191-9.
Karinen H, et al. Gene Dose Effect of the DQB1*0201 Allele Contributes to Severity of Coeliac Disease. Scand J Gastroenterol. 2006;41(2):191-9. PubMed PMID: 16484124.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gene dose effect of the DQB1*0201 allele contributes to severity of 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 - 2006/2/18/pubmed PY - 2006/6/7/medline PY - 2006/2/18/entrez SP - 191 EP - 9 JF - Scandinavian journal of gastroenterology JO - Scand. J. Gastroenterol. VL - 41 IS - 2 N2 - OBJECTIVE: Coeliac disease (CD) susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201. This HLA-associated risk has been estimated to account for 29-40% of the genetic component of CD. Conflicting data have been published on the gene dose effect of these HLA alleles on the risk and severity of CD. In this study the aim was to investigate the association between the number of HLA risk alleles and the severity of CD. MATERIAL AND METHODS: Fifty-four Finnish CD families, including 144 CD patients mainly diagnosed in adulthood (94.4%), were enrolled in the study. The association between the number of DQA1*0501 and DQB1*0201 alleles and villous atrophy, symptoms and laboratory parameters at the time of diagnosis, and the association with villous atrophy after one year of treatment on a gluten-free diet were studied. RESULTS: The homozygosity for the DQB1*0201 allele was associated with a more severe form of CD assessed by more severe villous atrophy (p=0.011), younger age (p=0.036), more severe diarrhoea (p=0.048) and a lower level of blood haemoglobin at the time of diagnosis (p=0.010). Furthermore, the homozygosity for the DQB1*0201 allele was associated with a slower recovery of villous atrophy after a gluten-free diet (p=0.041). In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD. CONCLUSIONS: Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet. SN - 0036-5521 UR - https://www.unboundmedicine.com/medline/citation/16484124/Gene_dose_effect_of_the_DQB1_0201_allele_contributes_to_severity_of_coeliac_disease_ L2 - http://www.tandfonline.com/doi/full/10.1080/00365520500206277 DB - PRIME DP - Unbound Medicine ER -