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Different DRB1*03:01-DQB1*02:01 haplotypes confer different risk for celiac disease

S Alshiekh1,2, L P Zhao3, Å Lernmark1

  • 1Department of Clinical Sciences, Lund University/CRC, Skåne University Hospital, Malmö, Sweden.

HLA
|June 7, 2017
PubMed

Insights

This study identifies specific human leukocyte antigen (HLA) haplotypes associated with celiac disease risk, particularly DRB3*01:01:02-DQA1*05:01-DQB1*02:01, which is most significant in Scandinavian populations.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Celiac disease is linked to specific human leukocyte antigen (HLA) haplotypes, including HLA-DR3-DQA1*05:01-DQB1*02:01 and DR4-DQA1*03:01-DQB1*03:02.
  • Over 40 non-HLA genetic loci are also associated with celiac disease.
  • Previous analyses have explored HLA haplotypes in celiac disease.

Purpose of the Study:

  • To extend previous analyses of HLA haplotypes in celiac disease using next-generation targeted sequencing.
  • To identify specific HLA class II haplotypes conferring risk for celiac disease.

Main Methods:

  • Next-generation targeted sequencing of HLA class II haplotypes (HLA-DRB1, DRB3, DRB4, DRB5, DQA1, DQB1).
  • Inclusion of 143 celiac disease patients and 135 non-celiac controls.
  • Calculation of odds ratios (RR) for each allele and haplotype frequency.

Main Results:

  • The strongest risk haplotype for celiac disease identified was DRB3*01:01:02 in linkage with DQA1*05:01-DQB1*02:01 (RR = 6.34).
  • In Scandinavian patients, DRB3*01:01:02-DQA1*05:01-DQB1*02:01 showed the highest significance (RR = 4.63).
  • Among non-Scandinavians, DRB1*07:01:01-DRB4*01:03:01-DQA1*02:01-DQB1*02:02:01 presented the highest risk (RR = 7.94).
  • Two distinct DR3-DQA1*05:01-DQB*02:01 risk haplotypes were identified, differentiated by DRB3*01:01:02 or DRB3*02:02:01 alleles.

Conclusions:

  • Different DRB1*03:01-DQB1*02:01 haplotypes confer varying risks for celiac disease.
  • The risk haplotype DR3-DRB3*01:01:02-DQA1*05:01-DQB1*02:01 is predominant in celiac disease patients of Scandinavian ethnicity.

Keywords:
HLAceliac diseasegenetic riskmassively parallel sequencingnext generation sequencing

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