Acknowledgements

DeLay in preparation of Albagha, O. M., Tasker, P. N., McGuigan, F. E., Reid, D. M. and Ralston, S. H. (2002). Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimeno-pausal women. Hum Mol Genet, 11, 2289-95. Allen, R.L., O'Callaghan, C.A., McMichael, A.J. and Bowness, P. (1999). Cutting edge HLA-B27 can form a novel beta 2-microglobulin-free heavy chain homodi-mer structure. J Immunol, 162, 5045-8. Allen,...

Positional cloning of IBD genes

Using a positional cloning approach, several investigators were able to detect linkage to IBD on different chromosomes (Cho et al., 1998 Duerr et al., 2000 Hampe et al., 1999a Hampe et al., 1999b Hugot et al., 1996 Rioux et al., 2000 Satsangi et al., 1996b). Nine IBD loci are today accepted as firmly established according to the criteria defined by Kruglyak and Lander (Figure 20.1). Additional loci exhibit suggestive evidence of linkage. Finally, a meta-analysis of the published genome scans...

Autoimmune diseases

The MHC is associated with many, if not all, conditions collectively known as autoimmune. These complaints span an extremely broad range of phenotypes but their symptoms all include some form of chronic inflammation. The MHC association does not necessarily invoke an increased susceptibility but may result in faster onset or increased severity. A sample of these conditions is provided in Table 9.1 and is covered more extensively elsewhere (Lechler and Warrens, 2000, Chapter 18 this volume). The...

Decreased bone resorption

This form of osteopetrosis, also known as autosomal recessive Albers-Schonberg disease or ''marble'' bone disease, is characterized by macro-cephaly, progressive loss of hearing and vision, hepatosplenomegaly, and severe anemia. This form typically presents in early infancy or even during fetal life. Ocular involvement with retinal degeneration occurs in about half by two months of age (Gerritsen et al., 1994). Without bone marrow transplant, the probability of survival to age 6 is only about...

Psoriasis OMIM 177900

Psoriasis is a chronic inflammatory dermatosis with a predilection for the extensor surfaces and a widely fluctuating clinical course. It is characterised clinically by raised, scaly red plaques, that vary in size from several millimetres to involving most of the body. In perhaps 15 of cases it is accompanied by a seronegative destructive inflammatory arthropathy Naysmith and Rees, 2003 . Histologically, the lesions are characterised by a dense inflammatory infiltrate comprising poly-morphs,...