Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis 英文参考文献.docVIP

Available online /content/11/5/254 Review Progress in spondylarthritis Progress in studies of the genetics of ankylosing spondylitis Matthew A Brown Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia Corresponding author: Matthew A Brown, matt.brown@.au Published: 29 October 2009 Arthritis Research Therapy 2009, 11:254 (doi:10.1186/ar2692) This article is online at /content/11/5/254 ? 2009 BioMed Central Ltd Abstract the disease 5.6 to 16 times greater than B27-positive individuals in the general population, implying the presence of non-B27 shared familial risk factors [5,6]. A major non-B27 contribution to susceptibility to AS is suggested by the greater concordance rate of monozygotic twins (63%) than of B27-positive dizygotic twin pairs (23%) [7]. The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made. Recurrence risk modeling indicates that the observed pattern of disease recurrence in families best fits an oligogenic disease model [8]. Extensive efforts to identify genes by linkage mapping in families h