Mapping study of ankylosing spondylitis on HLA region in Jilin population of China
吉林人群强直性脊柱炎6号染色体短臂上的HLA区域遗传易感基因定位研究

To find the susceptible genes of ankylosing spondylitis in Chinese population, we select 11 SNPs on gene HLA gene family that has strong linkage of ankylosing spondylitis in 6p21.3. By case-control study in 79 AS patients and 132 healthy subjects, the distribution of TNF-alpha-850 genotype TT is higher in AS group than that in normal control group (P=0.027); Mutational allele T has a significant statistically difference between AS group and normal control group (P=0.002). By linkage disequilibrium study, there are 5 SNPs present the linkage disequilibrium and the region is 15 kb, including gene LTA, TNF-alpha, LST1 and NCR3; In the haplotypes of the 5 SNPs , the distribution of haplotype TCTTC has statistical difference between AS group and normal control group (chi2=7.406, P=0.0065), the haplotype contains mutational allele T of TNF-alpha-850. The result hints that there may be susceptible sites of AS in this 15 kb region, which may be TNF-alpha-850 C-->T mutation or other sites that around the TNF-alpha-850.