AB0158 The Mode of Inheritance in the Chinese Han Families with Ankylosing Spondylitis
Authors: Y. Jiang, Q. Lv, Y. Zhang, M. Yang, J. Gu
Journal: Annals of the Rheumatic Diseases (2015)

<h3>Background</h3> Familial aggregation of Ankylosing spondylitis (AS) has been frequently documented. Disease susceptibility has been testified to be clearly attributable to genetic factors, but the mode of inheritance in AS remains poorly understood within a limited number of studies. <h3>Objectives</h3> The objective of this study was to determine the mode of inheritance that best fits the observed transmission pattern of AS among Chinese Han families. <h3>Methods</h3> Nine families with five or more AS patients diagnosed with 1984 modified New York criteria were recruited from the third affiliated hospital of Sun Yat-sen University. By using the Statistical Analysis for Genetic Epidemiology (S.A.G.E.) program, we performed complex segregation analysis for a binary trait in regressive multivariate logistic models to determine the mode of inheritance of AS. The inheritance models, including sporadic, major gene, environmental, general and other 9 models, were compared by likelihood ratio tests and Akaike9s Information Criterion. <h3>Results</h3> This research included 9 Chinese Han family with a total number of 315 members. There were totally 113 AS patients, including 43 male patients and 31 females. Complex segregation analysis revealed Mendelian dominate inheritance mode fitted best in five AS families, while a non-Mendelian model called Tau AB free model best explained the mode of inheritance in these AS families. <h3>Conclusions</h3> This study further provided evidence in support of Mendelian dominant mode in AS, and firstly discovered a non-Mendelian mode called tau AB free inheritance mode in AS Chinese Han pedigrees, implying AS could be a polygenetic or multifactoral disease. <h3>References</h3> Braun J, Sieper J. Ankylosing spondylitis. Lancet 2007. Ng SC, Liao Z, Yu DT, Chan ES, Zhao L, Gu J. Epidemiology of spondyloarthritis in the People9s Republic of China: review of the literature and commentary. Semin Arthritis Rheum 2007. Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, et al. Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 1997. Robinson WP, van der Linden SM, Khan MA, Rentsch HU, Cats A, Russell A, et al. HLA-Bw60 increases susceptibility to ankylosing spondylitis in HLA-B27+ patients. Arthritis Rheum 1989. Laval SH, Timms A, Edwards S, Bradbury L, Brophy S, Milicic A, et al. Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet 2001. Brown MA, Laval SH, Brophy S, Calin A. Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis 2000. Gu J, Huang J, Li C, Zhao L, Huang F, Liao Z, et al. Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families. J Med Genet 2009. Dernis E, Said-Nahal R, D9Agostino MA, Aegerter P, Dougados M, Breban M. Recurrence of spondylarthropathy among first-degree relatives of patients: a systematic cross-sectional study. Ann Rheum Dis 2009. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984. <h3>Acknowledgements</h3> We thank Dr. Rao Shaoqi and Dr.Zuo Xiaoyu for the assistance of performing the software. <h3>Disclosure of Interest</h3> None declared