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Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect.
Scand J Gastroenterol. 2009; 44(1):40-5.SJ

Abstract

OBJECTIVE

Coeliac disease (CD) is associated with HLA-DQ2 and DQ8. The clinical picture is variable and certain human leucocyte antigen (HLA) DQ/DR combinations have a higher relative risk (RR) for CD than others. Moreover, the HLA-DQ gene-dose effect has an impact on the strength of the gluten-specific T-cell response and thus may correlate with clinical presentation and severity of CD. The aim of this study was to determine the correlation between HLA-DQ/DR-based genotypes and the variation in phenotypes of the disease.

MATERIAL AND METHODS

A total of 113 non-related Caucasian children clinically diagnosed with CD during the period 1980-2003 with a known HLA type were included in the study. Patients were divided into four categories according to amount of disease expression predisposing to HLA-DQ2 or HLA-DQ8 molecules and the known RR of their HLA-DR/DQ type for CD: high (DR3DQ2 homozygous and DR3DQ2/DR7DQ2), substantial (DR3DQ2/DR5DQ7 and DR5DQ7/DR7DQ2), moderate (DR3DQ2-DR4DQ8 and DR3DQ2/DR*DQ*) and low (DR7DQ2/DR*DQ*, DR4DQ8- DR*DQ* and DR*DQ*- DR*DQ*). The clinical data and HLA genotypes of these patients were compared.

RESULTS

The 113 children were diagnosed with CD at a mean age of 4.6 years and boys were significantly older than girls when diagnosed (p=0.01). RR for having CD was highest for the high HLA-risk group (RR 8.1). With the exception of a greater frequency of abdominal distension and fewer non-gastrointestinal symptoms in the substantial HLA-risk group, there were no significant differences in clinical characteristics or degree of severity of the small-bowel histological findings between the children in the different HLA-risk groups.

CONCLUSION

No correlation was found between disease severity and a double HLA-DQ2 gene dose.

Authors+Show Affiliations

Department of Paediatric Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18932050

Citation

Vermeulen, Beatrijs A N., et al. "Phenotypic Variance in Childhood Coeliac Disease and the HLA-DQ/DR Dose Effect." Scandinavian Journal of Gastroenterology, vol. 44, no. 1, 2009, pp. 40-5.
Vermeulen BA, Hogen Esch CE, Yuksel Z, et al. Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect. Scand J Gastroenterol. 2009;44(1):40-5.
Vermeulen, B. A., Hogen Esch, C. E., Yuksel, Z., Koning, F., Verduijn, W., Doxiadis, I. I., Schreuder, G. M., & Mearin, M. L. (2009). Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect. Scandinavian Journal of Gastroenterology, 44(1), 40-5. https://doi.org/10.1080/00365520802116422
Vermeulen BA, et al. Phenotypic Variance in Childhood Coeliac Disease and the HLA-DQ/DR Dose Effect. Scand J Gastroenterol. 2009;44(1):40-5. PubMed PMID: 18932050.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect. AU - Vermeulen,Beatrijs A N, AU - Hogen Esch,Caroline E, AU - Yuksel,Zehre, AU - Koning,Frits, AU - Verduijn,Willem, AU - Doxiadis,Ilias I N, AU - Schreuder,Geziena M Th, AU - Mearin,M Luisa, PY - 2008/10/22/pubmed PY - 2009/3/13/medline PY - 2008/10/22/entrez SP - 40 EP - 5 JF - Scandinavian journal of gastroenterology JO - Scand. J. Gastroenterol. VL - 44 IS - 1 N2 - OBJECTIVE: Coeliac disease (CD) is associated with HLA-DQ2 and DQ8. The clinical picture is variable and certain human leucocyte antigen (HLA) DQ/DR combinations have a higher relative risk (RR) for CD than others. Moreover, the HLA-DQ gene-dose effect has an impact on the strength of the gluten-specific T-cell response and thus may correlate with clinical presentation and severity of CD. The aim of this study was to determine the correlation between HLA-DQ/DR-based genotypes and the variation in phenotypes of the disease. MATERIAL AND METHODS: A total of 113 non-related Caucasian children clinically diagnosed with CD during the period 1980-2003 with a known HLA type were included in the study. Patients were divided into four categories according to amount of disease expression predisposing to HLA-DQ2 or HLA-DQ8 molecules and the known RR of their HLA-DR/DQ type for CD: high (DR3DQ2 homozygous and DR3DQ2/DR7DQ2), substantial (DR3DQ2/DR5DQ7 and DR5DQ7/DR7DQ2), moderate (DR3DQ2-DR4DQ8 and DR3DQ2/DR*DQ*) and low (DR7DQ2/DR*DQ*, DR4DQ8- DR*DQ* and DR*DQ*- DR*DQ*). The clinical data and HLA genotypes of these patients were compared. RESULTS: The 113 children were diagnosed with CD at a mean age of 4.6 years and boys were significantly older than girls when diagnosed (p=0.01). RR for having CD was highest for the high HLA-risk group (RR 8.1). With the exception of a greater frequency of abdominal distension and fewer non-gastrointestinal symptoms in the substantial HLA-risk group, there were no significant differences in clinical characteristics or degree of severity of the small-bowel histological findings between the children in the different HLA-risk groups. CONCLUSION: No correlation was found between disease severity and a double HLA-DQ2 gene dose. SN - 1502-7708 UR - https://www.unboundmedicine.com/medline/citation/18932050/Phenotypic_variance_in_childhood_coeliac_disease_and_the_HLA_DQ/DR_dose_effect_ L2 - http://www.tandfonline.com/doi/full/10.1080/00365520802116422 DB - PRIME DP - Unbound Medicine ER -