Description of Project

The consortium, Coeliac Disease Study Group, is an interdisciplinary research group focusing on gluten-induced disease entities in clinical, translational and basic research. The main aim for the study programme is to understand the role of nutrition in health and well being: sustaining health and preventing disease. In clinics our aim is to widen the diagnosis of coeliac disease to what we have started to call genetic gluten intolerance, gluten-induced disease entities with or without manifest mucosal lesion. Our clinical focus is also on gluten-induced extraintestinal manifestations and to know the true prevalence of the disease. We are also developing simple and reliable non-invasive screening tests to detect even silent and early developing coeliac disease. Gluten-induced disease mechanisms are our second main area of research. Further, we are studying the humoral immunity aspect and the biological functions of coeliac-specific immunoglobulin A. The genetic study line aims at the identification of genetic susceptibility loci to coeliac disease. The final goal of the Coeliac Disease Study Group is to find the basis for development of new therapeutic strategies, less burdensome to a patient than a strict life-long gluten-free diet.

Coeliac Disease Service Laboratory provides other hospitals, health centres, private laboratories etc. with serological screening tests to detect coeliac disease and to monitor gluten-free diet. These tests are IgA and IgG class deamidated gliadin peptide, tissue transglutaminase and endomysial antibody tests. Frozen jejunal biopsy specimens may be sent to us for further studies. These are markers of coeliac disease latency or early developing coeliac disease (density of intraepithelial CD3 cells, alpha-beta T cells and gamma-delta T cells, expression of mucosal DR and mucosal IgA deposits). The Service Laboratory participated in the standardization of tissue autoantibody tests (European multicentre study). We are also coordinating the quality control of the tests in Finland together with Labquality Oy. We participate in the UK Neqas quality control for celiac antibody tests.

SELECTED PUBLICATIONS since 1991

1. Mäki M, Holm K, Lipsanen V, Hällström O, Viander M, Collin P, Savilahti E, Koskimies S. Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Lancet 1991;338:1350-53.
2. Mäki M, Hällström O, Marttinen A. Reaction of human non-collagenous polypeptides with coeliac disease autoantibodies. Lancet 1991;338:724-25.
3. Mäki M, Holm K, Collin P, Savilahti E. Increase in gamma/delta T cell receptor bearing lymphocytes in normal small bowel mucosa in latent coeliac disease. Gut 1991;32:1412-4.
4. Holm K, Mäki M, Savilahti E, Lipsanen V, Laippala P, Koskimies S. Intraepithelial gamma/delta T-cell-receptor lymphocytes and genetic susceptibility to coeliac disease. Lancet 1992;339:1500-03.
5. Savilahti E, Reunala T, Mäki M. Increase of lymphocytes bearing the gamma/delta T-cell receptor in the jejunum of patients with dermatitis herpetiformis. Gut 1992;33:206-11.
6. Mäki M, Huupponen T, Holm K, Hällström O. Seroconversion of reticulin autoantibodies predicts coeliac disease in insulin-dependent diabetes mellitus. Gut 1995;36;239-42. 
7. Halttunen T, Marttinen A, Rantala I, Kainulainen H, Mäki M. Fibroblasts and transforming growth factor b induce organization and differentiation of T84 human epithelial cells. Gastroenterology 1996;111:1252-62.
8. Mäki M, Collin P. Coeliac disease. Lancet 1997;349:1755-9.
9. Sulkanen S, Halttunen T, Laurila K, Kolho K-L, Korponay-Szabo I, Sarnesto A, Savilahti E, Collin P, Mäki M. Tissue transglutaminase autoantibody enzyme-linked immunosorbent assay in detecting celiac disease. Gastroenterology 1998;115:1322-8.
10. Mustalahti K, Collin P, Sievänen H, Salmi J, Mäki M. Osteopenia in patients with clinically silent coeliac disease warrants screening. Lancet 1999;354:744-5.
11. Halttunen T, Mäki M. Serum immunoglobulin A from patients with celiac disease inhibits human T84 intestinal crypt epithelial cell differentiation. Gastroenterology 1999;116:566-72.
12. Kaukinen K, Halme L, Collin P, Färkkilä M, Mäki M, Vehmanen P, Partanen J, Höckerstedt K. Celiac disease in patients with severe liver disease: gluten-free diet may reverse hepatic failure. Gastroenterology 2002;122:881-8.
13. Korponay-Szabó IR, Laurila K, Szondy Z, Halttunen T, Szalai Z, Dahlbom I, Rantala I, Kovács JB, Fésüs L, Mäki M. Missing endomysial and reticulin binding of coeliac antibodies in transglutaminase 2 knockout tissues. Gut 2003;52:199-204.
14. Mäki M, Mustalahti K, Kokkonen J, Kulmala P, Haapalahti M, Karttunen T, Ilonen J, Laurila K, Dahlbom I, Hansson T, Höpfl P, Knip M. Prevalence of celiac disease among children in Finland. N Engl J Med 2003;348:2517-24.
15. Korponay-Szabo IR, Halttunen T, Szalai Z, Laurila K, Király R, Kovács JB, Fésüs L, Mäki M. In vivo targeting of intestinal and extraintestinal transglutaminase 2 by coeliac autoantibodies. Gut 2004;53:641-8.
16. Salmi T, Collin P, Korponay-Szabo IR, Laurila K, Partanen J, Huhtala H, Kiraly R, Lorand L, Reunala T, Mäki M, Kaukinen K. Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut 2006;55:1746-53.
17. Hadjivassiliou M, Mäki M, Sanders DS, Williamson C, Grünewald RA, Woodroofe N, Korponay-Szabó IR. Autoantibody targeting of brain and intestinal transglutaminase in gluten ataxia. Neurology 2006;66:373-77.
18. Korponay-Szabó IR, Szabados K, Pusztai J, Uhrin K, Ludmány É, Nemes É, Kaukinen K, Kapitány A, Holopainen P, Sipka S, Imre A, Mäki M. District nurses finding coeliac disease in the population by decentralised rapid antibody testing at age six. BMJ  2007;335:1244-7.
19. Kurppa K, Collin P, Viljamaa M, Haimila K, Saavalainen P, Partanen J, Laurila K, Huhtala H, Paasikivi K, Mäki M, Kaukinen K. Diagnosing mild enteropathy celiac disease: a randomized, controlled clinical study. Gastroenterology 2009;136:816-23.
20. Mäki M, Korponay-Szabo I. Methods and Means for Detecting Gluten-Induced Diseases. USA States Patent Number 7,361,480 – USA. Patent Granted 22.4.2008. European Patent No. 1390753. European Patent Office 22.10.2008.