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HLA-DQA1*0501 and DQB1*02 homozygosity and disease susceptibility in Spanish coeliac patients.
Exp Clin Immunogenet. 1997; 14(4):286-90.EC

Abstract

Coeliac disease (CD) susceptibility is strongly associated with HLA-DQA1*0501 and DQB1*02 alleles. There are discordant reports on whether homozygosity increases the risk. We genotyped HLA-DQA1*0501 and DQB1*02 in 50 CD patients, 100 parents, and 50 controls. Most patients (96%) were positive for DQA1*0501 (RR = 18.07, p < 0.001), 94% for DQB1*02 (RR = 17.55, p < 0.001), and 92% for both alleles together (RR = 31.82, p < 0.001). DQA1*0501 was found in 52% of controls, DQB1*02 in 44%, and only 24% had both alleles. Patients homozygosity or heterozygosity was estimated by assessing-in each case-whether one or both parents were carriers of the allele of risk. The frequencies of parents both positive for DQA1*0501 (58%) and for DQB1*02 (53.1%) were higher than expected by the fact that the proband is a carrier. These findings suggest that the frequency of homozygosity is increased among CD patients, and therefore, homozygosity for either DQA1*0501 or DQB1*02 represents a risk factor added to the fact of being a carrier.

Authors+Show Affiliations

University of Valladolid, Department of Paediatrics, Valladolid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9523165

Citation

Arranz, E, et al. "HLA-DQA1*0501 and DQB1*02 Homozygosity and Disease Susceptibility in Spanish Coeliac Patients." Experimental and Clinical Immunogenetics, vol. 14, no. 4, 1997, pp. 286-90.
Arranz E, Telleria JJ, Sanz A, et al. HLA-DQA1*0501 and DQB1*02 homozygosity and disease susceptibility in Spanish coeliac patients. Exp Clin Immunogenet. 1997;14(4):286-90.
Arranz, E., Telleria, J. J., Sanz, A., Martin, J. F., Alonso, M., Calvo, C., & Blanco-Quirós, A. (1997). HLA-DQA1*0501 and DQB1*02 homozygosity and disease susceptibility in Spanish coeliac patients. Experimental and Clinical Immunogenetics, 14(4), 286-90.
Arranz E, et al. HLA-DQA1*0501 and DQB1*02 Homozygosity and Disease Susceptibility in Spanish Coeliac Patients. Exp Clin Immunogenet. 1997;14(4):286-90. PubMed PMID: 9523165.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - HLA-DQA1*0501 and DQB1*02 homozygosity and disease susceptibility in Spanish coeliac patients. AU - Arranz,E, AU - Telleria,J J, AU - Sanz,A, AU - Martin,J F, AU - Alonso,M, AU - Calvo,C, AU - Blanco-Quirós,A, PY - 1997/1/1/pubmed PY - 1998/4/2/medline PY - 1997/1/1/entrez SP - 286 EP - 90 JF - Experimental and clinical immunogenetics JO - Exp. Clin. Immunogenet. VL - 14 IS - 4 N2 - Coeliac disease (CD) susceptibility is strongly associated with HLA-DQA1*0501 and DQB1*02 alleles. There are discordant reports on whether homozygosity increases the risk. We genotyped HLA-DQA1*0501 and DQB1*02 in 50 CD patients, 100 parents, and 50 controls. Most patients (96%) were positive for DQA1*0501 (RR = 18.07, p < 0.001), 94% for DQB1*02 (RR = 17.55, p < 0.001), and 92% for both alleles together (RR = 31.82, p < 0.001). DQA1*0501 was found in 52% of controls, DQB1*02 in 44%, and only 24% had both alleles. Patients homozygosity or heterozygosity was estimated by assessing-in each case-whether one or both parents were carriers of the allele of risk. The frequencies of parents both positive for DQA1*0501 (58%) and for DQB1*02 (53.1%) were higher than expected by the fact that the proband is a carrier. These findings suggest that the frequency of homozygosity is increased among CD patients, and therefore, homozygosity for either DQA1*0501 or DQB1*02 represents a risk factor added to the fact of being a carrier. SN - 0254-9670 UR - https://www.unboundmedicine.com/medline/citation/9523165/HLA_DQA1_0501_and_DQB1_02_homozygosity_and_disease_susceptibility_in_Spanish_coeliac_patients_ L2 - https://medlineplus.gov/celiacdisease.html DB - PRIME DP - Unbound Medicine ER -