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Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: Results of genetic studies across generations of Han Chinese families
  1. Jieruo Gu (gujieruo{at}163.com)
  1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
    1. Jinxian Huang (jinxianhuang{at}163.com)
    1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
      1. Chao Li
      1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
        1. Like Zhao
        1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
          1. Feng Huang
          1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
            1. Zetao Liao
            1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
              1. Tianwang Li
              1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                1. Qiujing Wei
                1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                  1. Zhiming Lin
                  1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                    1. Yunfeng Pan
                    1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                      1. Jianlin Huang
                      1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                        1. Xinwei Wang
                        1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                          1. Qu Lin
                          1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                            1. Caisheng Lu
                            1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                              1. Yuqiong Wu
                              1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                                1. Shuangyan Cao
                                1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                                  1. Jing Wu
                                  1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                                    1. Haixia Xu
                                    1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                                      1. Buyun Yu
                                      1. Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
                                        1. Yan Shen
                                        1. The Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical, China

                                          Abstract

                                          Ankylosing spondylitis (AS) is a chronic, potentially crippling, spondyloarthropathy with strong genetic components affecting approximately 0.3% of the population. Its exact genetic mechanism and mode of transmission, however, remains obscure. We conducted a genome wide scan on 75 individuals across multiple generations of 3 Han Chinese families affected with AS. Segregation analysis and pedigree investigation suggested an autosomal dominant inheritance. Pairwise LOD scores were calculated using LINKAGE package for the obtained genotypes. High-resolution mapping was then performed based on markers with significant LOD scores. To minimize the number of crossovers in each family, haplotype were constructed and assigned. Two of the pedigrees shared one candidate region for AS on 2q36.1-2q36.3 spanning 6-cM (maximum heterogeneity LOD score of 12.41 at marker D2S2228), while the other showed strong linkage to the HLA-B region. Hitherto, this is the first report which proposes one of the new genetic models autosomal dominant transmission in AS. The breakthrough in the identification of linkage to chromosome 2q36.1-2q36.3 and the HLA-B region highlight the future potential of more comprehensive genetic studies of determinants of disease risk.

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