Lab test results for gluten intolerance

Celiac Disease Test Results and Risk Analysis
Data
Medical
Author

Aaron Carver

Published

February 2023

HLA DQ Association Results (LabCorp)

HLA Type Result Method
DQ2 (DQA1 0501/0505,DQB1 02XX) Positive 02
DQ8 (DQA1 03XX, DQB1 0302) Negative 02
Note
  • HLA - Human Leukocyte Antigen
  • DQ2 and DQ8 - genes associated with risk of Celiac Disease
Locus Allele 1 Allele 2
DQA1 01:CCHDA 05:CCBFY
DQB1 02:CCDGV 06:CCDGW
CCBFY

05:01/05:15N/05:18/05:19

CCDGV

02:01, 02:07, 02:08, 02:09, 02:14, 02:27, 02:53Q, 02:59, 02:63, 02:72, 02:83, 02:96N, 02:98, 02:99, 02:101, 02:105, 02:106, 02:107, 02:108, 02:109, 02:111, 02:112, 02:114, 02:115, 02:118, 02:119, 02:123, 02:125, 02:130, 02:131, 02:132N, 02:134N, 02:135, 02:136, 02:148, 02:152, 02:155, 02:157, 02:158, 02:160, 02:161, 02:162

CCDGW

06:02, 06:46, 06:47, 06:84, 06:109, 06:111, 06:113, 06:114, 06:115, 06:116, 06:117, 06:125, 06:127, 06:188, 06:200, 06:216N, 06:219, 06:224, 06:232, 06:236, 06:237, 06:240, 06:242, 06:256, 06:264, 06:271, 06:273, 06:286, 06:289, 06:290, 06:293, 06:295, 06:296, 06:297, 06:300, 06:304N, 06:308N, 06:311, 06:314, 06:318, 06:320, 06:325, 06:326, 06:332, 06:335, 06:338, 06:341N, 06:344, 06:347

CCHDA

01:02, 01:08, 01:09, 01:11, 01:16N, 01:19, 01:20, 01:21, 01:23, 01:25, 01:31, 01:32, 01:39

Comments

The patient is positive for DQ2. Celiac Disease risk from the HLA DQA/DQB genotype is approximately 1:35 (2.9%) Allele Interpretation for all loci based on IMGT/HLA database version 3.37.0

HLA Lab CLIA ID Number 34D0954530 Greater than 95% of celiac patients are positive for either DQ2 or DQ8 (Sollid and Thorsby, (1993) Gastroenterology 105:910-922). However these antigens may also be present in patients who do not have Celiac disease.

Notes

This test was performed using Polymerase Chain Reaction/(PCR)Sequence Specific Oligonucleotide Probes (SSOP) (Luminex) technique. Sequence Based Typing (SBT) and/or Sequence Specific Primers (SSP) may be used as supplemental methods when necessary. Please contact HLA Customer Service at 1-800-533-1037 if you have any questions.

Director of HLA Laboratory
Dr George C Maha, PhD

Additional Information

Celiac disease is a chronic immune-mediated inflammatory disorder with multi-systemic manifestations, both gastrointestinal and non-gastrointestinal. In genetically susceptible individuals, ingestion of gluten can cause inflammation and damage to the small intestine mucosa. Celiac disease has an incidence of 1:100 in the United States. In order for celiac disease to develop, human leukocyte antigen (HLA) molecule DQ2 (encoded by alleles DQA10501 or 0505 plus DQB10201 or 0202), half of the DQ2 molecule, or DQ8 (encoded DQA03 plus DQB10302) must be present. These molecules confer susceptibility to celiac disease by binding to gluten and interacting with intestinal T cells, leading to a pathogenic immune response involving autoimmunity. The familial nature of susceptibility to celiac disease is shown by an 11-14% prevalence of this disorder in siblings of individuals with celiac disease and a 70% concordance rate between identical twins. Among celiac disease patients, >90% carry DQ2, 5-10% carry DQ8, and the remaining carry half DQ2. The presence of DQ2, half DQ2, or DQ8 alone is not sufficient for a diagnosis of celiac disease. Clinical symptoms, positive antibody results for endomysial, tissue transglutaminase or deamidated gliadin peptide antibodies, or abnormal small bowel biopsy results all support a diagnosis of celiac disease. Most individuals with a positive genetic result do not develop celiac disease. The risk for developing celiac disease in individuals with a positive genetic result approaches 40% if there is a known first degree relative with celiac disease.

Table: Genetic Risk from HLA-DQA/DQB Genotypes

Genotype Risk
DQ2 + DQ8 1:7 (14.3%)
DQ2 + DQ2 OR DQ2 Homozygous *02 1:10 (10%)
DQ8 + DQ8 1:12 (8.4%)
DQ8 + DQB1*02 1:24 (4.2%)
Homozygous DQB*02 1:26 (3.8%)
DQ2 alone 1:35 (2.9%)
DQ8 alone 1:89 (1.1%)
Population risk (genotype unknown) 1:100 (1%)
1/2 DQ2:DQB1*02 1:210 (0.5%)
1/2 DQ2:DQA1*05 1:1842 (0.05%)
No HLA-DQA/DQB susceptibility alleles 1:2518 (<0.04%)

From Megiorni et al. 2009 for all genotypes except DQ8 + DQ8 DQ8 + DQ8 risk is from Pietzak et al. 2009 *Other influences on risk for celiac disease

The overall risk for an individual to develop celiac disease is influenced not just by genetic risk from the HLA-DQA/DQB genotype, but by presence of symptoms of celiac disease, positive results for celiac antibody tests or intestinal biopsy, and having relatives with celiac disease. Celiac disease risk is also higher in individuals with IgA deficiency, Down syndrome, Turner syndrome, and the autoimmune disorders Type 1 diabetes mellitus, Sjögren syndrome, and thyroiditis. There are also additional genetic influences on the development of celiac disease in individuals predisposed to celiac disease.

References

  1. Green PH, Cellier C. Celiac Disease. N Engl J Med 2007; 357:1731-1743.
  2. Megiorni F, Mora B, Bonamico M et al. HLA-DQ and risk gradient for celiac disease. Hum Immunol 2009; 70:55-59.
  3. Pietzak MM, Schofield TC, McGinniss MJ et al. Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles. Clin Gastroenterol Hepatol 2009; 7:966-971.
  4. Sollid LM and Lie BA. (2005). Celiac Disease Genetics: Current Concepts and Practical Applications. Clin Gastroenterol and Hepat 3:843-851.
  5. Snyder CL, Young DO, Green PHR, et al. Celiac Disease. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. University of Washington, Seattle, July 3, 2008:1-27. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=celiac PMID: 20301720 [PubMed]
  6. Treem W. Emerging concepts in celiac disease. Curr Opin Pediatr 2004;16:552-559.