An additional seven gene regions have been identified that are linked to coeliac disease. Additionally, of the nine coeliac associated gene regions now known, four also predispose a patients to type 1 diabetes. This research marks a step forward in the understanding of coeliac disease as well as the origins of diabetes, and was published on March 2, 2008 in Nature Genetics.
Coeliac disease (sometimes spelled celiac) is a common disease in the Western world, affecting an estimated 1% of the Indo-European population. It is triggered by an intolerence to gluten, a protein combination found in foods containing wheat, barley, and rye. It is an immune-mediated disease which, if left undetected, can lead to severe problems such as anemia, weak bone health, fatigue, and weight loss. Presently, symptoms can only be treated by a restricted diet.
David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry, led a team that last year identified a new genetic risk factor for coeliac disease. Continuing this research, they collaborated with researchers in Ireland, the Netherlands, and the Wellcome Trust Sanger Institute to learn more about more hereditary factors contributing to the disease. They began by performing a genome wide association study, comparing genetic markers across the genome in coeliac disease subjects to healthy controls. Focusing on 1,000 of th strongest markers, they identified seven new regions associated with risk of the disease. Six of these specifically hold genes that are critical to control of the immune response, which reinforces their significance in the disease’s development.
Professor van Heel states that this is a major movement forward in the understanding of coeliac disease: “So far our findings explain nearly half of the heritability of coeliac disease – now studies with many more samples from individuals with coeliac disease are needed to identify the precise causal genetic variants from each region, and understand how these influence biological processes.”
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Newly identified genetic risk variants for celiac disease related to the immune response
Karen A Hunt, Alexandra Zhernakova, Graham Turner, Graham A R Heap, Lude Franke, Marcel Bruinenberg, Jihane Romanos, Lotte C Dinesen, Anthony W Ryan, Davinder Panesar, Rhian Gwilliam, Fumihiko Takeuchi, William M McLaren, Geoffrey K T Holmes, Peter D Howdle, Julian R F Walters, David S Sanders, Raymond J Playford, Gosia Trynka, Chris J J Mulder, M Luisa Mearin, Wieke H M Verbeek, Valerie Trimble, Fiona M Stevens, Colm O’Morain, Nicholas P Kennedy, Dermot Kelleher, Daniel J Pennington, David P Strachan, Wendy L McArdle, Charles A Mein, Martin C Wapenaar, Panos Deloukas, Ralph McGinnis, Ross McManus, Cisca Wijmenga & David A van Heel
Nature Genetics, 2 March 2008
doi:10.1038/ng.102
Written by Anna Sophia McKenney