The first large population based twin study of coeliac disease (original) (raw)

The first large population based twin study of coeliac disease

Loading

  1. L Greco1,
  2. R Romino1,
  3. I Coto1,
  4. N Di Cosmo1,
  5. S Percopo1,
  6. M Maglio1,
  7. F Paparo1,
  8. V Gasperi1,
  9. M G Limongelli1,
  10. R Cotichini2,
  11. C D'Agate3,
  12. N Tinto4,
  13. L Sacchetti4,
  14. R Tosi5,
  15. M A Stazi2
  16. 1Department of Paediatrics, University of Naples Federico II, Naples, Italy and European Laboratory of Food Induced Disease (ELFID), Naples, Italy
  17. 2Istituto Superiore di Sanità, Rome, Italy
  18. 3Italian Coeliac Society, Southern Italy Regions, Italy
  19. 4Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
  20. 5Cellular Biology Institute, CNR, Rome, Italy
  21. Correspondence to:
    Professor L Greco, Università di Napoli Federico II, Dipartimento di Pediatria, Edificio 11, Via S Pansini 5, 80131 Napoli, Italy;
    ydongre{at}unina.it

Abstract

Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study.

Methods: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules.

Results: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1–134), independent of the DQ at risk genotype.

Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

View Full Text

Read the full text or download the PDF:

Log in using your username and password

Read the full text or download the PDF:

Log in using your username and password