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《Hereditas(Beijing)》 2005-01
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Recognition and Study of Susceptible Gene to Ankylosing Spondylitis

ZHU Xiao-Quan~(1*),ZENG Qing-Yu~2,SUN Liang~(3,4*), WANG Gang~5, TANG Lei~1, HOU Zhi-Duo~2, WANG Qing-Wen~2,LIN Ling~2, WANG Li~3, YANG Ze~1(1. Institute of Geriatrics, Ministry of Health, Beijing Hospital, Beijing 100730,China; 2. Department of Rheumatology, Shantou University Medical Colleg,Shantou 515041,China;3. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101,China; 4. Graduate School of the Chinese Academy of Sciences, Beijing 100039, China; 5. Huizhou Blood Center,Huizhou 516202,China)  
To study the potential correlations between variances of TNFα gene and onset of ankylosing spondylitis in Chinese population, we scanned and analyzed the promoters of TNFα gene in 36 AS patients from south of China and found -850 T mutation allele frequency rather high (43.06%).By case-control study, the distribution of TT genotype is significantly higher in AS patients than that in normal subjects (13.89% vs 2.1%,P=0.001); Mutation T allele has a remarkable difference between AS group and normal control (72.2% vs 21.4%,P=2.719×10~(-9)). The difference in distribution of TX genotype and non -TX genotype is also significant statistically between different genders(male: P=3.42×10~(-9);female: P=0.001).The result shows that this variation has a strong association with AS in males and females. No similar reports about the association between AS and the T mutation allele have been acquired. Therefore, the -850 C→T mutation allele in the region on promoter of TNFα gene is likely one of susceptible genes to (AS.)
【Fund】: 国家高技术研究发展计划(863计划)基金资助项目(2002AA223031);; 北京市自然科学基金项目(7033049);; 国家重点基础研究发展规划(973计划)课题(G2000057009);; 国家自然科学基金项目(30471926;39970399)~~
【CateGory Index】: R593.24
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