| ERAP1基因与山东汉族人群强直性脊柱炎的相关性 |
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| 引用本文： | 夏羽,王来城,孙慧,唐宏伟,马春燕,崔彬,赵跃然.ERAP1基因与山东汉族人群强直性脊柱炎的相关性[J].山东大学学报(医学版),2011,49(10):127-130. |
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| 作者姓名： | 夏羽 王来城 孙慧 唐宏伟 马春燕 崔彬 赵跃然 |
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| 作者单位： | 1. 山东省立医院中心实验室,济南,250021
2. 聊城市人民医院眼科,山东聊城,252000 |
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| 基金项目： | 山东省中青年科学家奖励基金(BS2009SW039); 国家自然科学基金(81001338) |
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| 摘 要： | 目的利用基于群体的病例对照关联分析方法,探讨ERAP1基因是否为北方汉族人群的易感基因。方法从山东省立医院收集了311例临床确诊的强直性脊柱炎病例及320例正常对照资料,利用Taqman探针法对ERAP1基因内的两个单核苷酸多态性位点rs7711564和rs27434分型,利用PLINK软件行Hardy-Weinberg遗传平衡检验、等位基因及基因型频率分布分析。样本统计学效能采用CaTS软件计算。结果两个位点在病例组及对照组中均达到遗传平衡,其中rs7711564位点罕见等位基因频率在病例组及对照组分别为0.430 9和0.489 1(OR=1.26,P=0.04),rs27434位点罕见等位基因频率在病例组和对照组分别为0.483 9与0.421 9(OR=0.78,P=0.03)。结论 ERAP1基因内的遗传变异与北方汉族人群强直性脊柱炎相关,进一步证实了该基因是强直性脊柱炎的易感基因。
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| 关 键 词： | 强直性脊柱炎 ERAP1基因 关联分析 汉族人群 |
Association of polymorphisms in the ERAP1 gene with ankylosing spondylitis in the Han Chinese population |
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| XIA Yu,WANG Lai-cheng,SUN Hui,TANG Hong-wei,MA Chum-yan,CUI Bin,ZHAO Yue-ran.Association of polymorphisms in the ERAP1 gene with ankylosing spondylitis in the Han Chinese population[J].Journal of Shandong University:Health Sciences,2011,49(10):127-130. |
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| Authors: | XIA Yu WANG Lai-cheng SUN Hui TANG Hong-wei MA Chum-yan CUI Bin ZHAO Yue-ran |
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| Institution: | XIA Yu~1,WANG Lai-cheng~1,SUN Hui~1,TANG Hong-wei~2,MA Chun-yan~1,CUI Bin~1,ZHAO Yue-ran~1 (1.Central Laboratory,Shandong Provincial Hospital,Jinan 250021,China,2.Department of Ophthalmology,Liaocheng People's Hospital,Liaocheng 252000,Shandong,China) |
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| Abstract: | Objective To validate the association of ERAP1 gene polymorphisms with ankylosing spondylitis(AS) in the northern Han Chinese population.Methods 311 AS patients and 320 healthy controls from Shandong Provincial hospital were enrolled in this case-control association study.The Taqman SNP genotyping method was used to genotype 2 SNPs:rs7711564 and rs27434 in the ERAP1 gene.The differences of allele and genotype frequencies were analyzed using PLINK 1.07.Results The distributions of the 2 SNPs were in Hardy-We... |
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| Keywords: | Ankylosing spondylitis ERAP1 gene Association study Chinese Han |
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