与宁夏人群强直性脊柱炎关联的新基因淋巴毒素-α (LTA)的识别

doi:10.3724/SP.J.1005.2011.00329

遗传 ›› 2011, Vol. 33 ›› Issue (4): 329-336.doi: 10.3724/SP.J.1005.2011.00329

与宁夏人群强直性脊柱炎关联的新基因淋巴毒素-α (LTA)的识别

陈静^{1, 2}, 周林^{1, 2}, 霍正浩², 张毓洪³, 杨芝红³, 杨宝珍³, 黄慈波¹, 朱小泉¹, 杨泽¹

1. 卫生部北京医院, 卫生部北京老年医学研究所, 北京100730 2. 宁夏医科大学医学遗传与细胞生物学教研室, 银川750004 3. 宁夏医科大学附属医院医学实验中心, 银川750004

收稿日期:2010-07-26 修回日期:2010-08-23 出版日期:2011-04-20 发布日期:2011-04-25
通讯作者: 杨泽 E-mail:yangze016@yahoo.com.cn
基金资助:
国家自然科学基金项目(编号：30972709, 81061120527)资助

Identification of a novel lymphotoxin-alpha (LTA) gene associ-ated with ankylosing spondylitis in Ningxia population

CHEN Jing^{1, 2}, ZHOU Lin^{1, 2}, HUO Zheng-Hao², ZHANG Yu-Hong³, YANG Zhi-Hong³, YANG Bao-Zhen³, HUANG Ci-Bo¹, ZHU Xiao-Quan¹, YANG Ze¹

1. Institute of Geriatrics, Beijing Hospital, Ministry of Health of PR China, Beijing 100730, China 2. Department of Cell Biology and Medical Genetics, Ningxia Medical University, Yinchuan 750004, China 3. Center of Medical Experiment, Affiliated Hospital of Ningxia Medical University, Yinchuan 750004, China

Received:2010-07-26 Revised:2010-08-23 Online:2011-04-20 Published:2011-04-25
Contact: YANG Ze E-mail:yangze016@yahoo.com.cn

摘要/Abstract

摘要： 淋巴毒素-α (Lymphotoxin-alpha, LTA) 基因与系统性红斑狼疮、银屑病及类风湿性关节炎的遗传性有关, 但目前还未有关于LTA基因与强直性脊柱炎 (Ankylosing spondylitis, AS) 关联的报道。文章采用病例-对照设计, 在宁夏人群中对人类白细胞抗原 (Human leukocyte antigen, HLA) 的III类基因约58 kb区域进行了高密度标志的基因组扫描, 在33个SNPs及其单倍型中, 仅定位于LTA基因中的SNPs组成的TCC单倍型的分布在病例-对照间比较有统计学意义(P=0.0005)。在宁夏群体(病例组: 300, 对照组: 385)中发现, LTA 基因中的rs909253 T/C多态性在AS患者中出现的频率显著高于正常对照(28.5% vs 19.7%, P=2×10^-6)。结果表明LTA基因变异和AS易感性之间存在相关性, 由此识别LTA基因可能与宁夏人群AS关联。

关键词: LTA基因, 强直性脊柱炎, 关联, 识别

Abstract: Lymphotoxin-alpha (LTA) gene has been reported to have a genetic association with systemic lupus erythematosus (SLE), psoriasis, and rheumatoid arthritis. However, the association of LTA with ankylosing spondylitis (AS) has not reported. By case-control study, we carried out the high density limited genome scanning to the HLA class III region about 58 kb in Ningxia population (case 300 and control 385). In this study, 33 SNPs in LTA were genotyped in Ningxia population. We analyzed these SNPs and the haplotypes covering LTA. Only the distribution of TCC haplotype which contains mutation allele of LTA rs909253 was statistically significant(P=0.0005). The C allele frequency of the LTA rs909253 T/C polymorphism was higher in AS cases than that in the controls (28.5% versus 19.7%, P=2×10^-4) in Ningxia population. The results suggest that there is a relevance between LTA and the susceptibility of AS, and we identified that the LTA polymorphism may be associated with AS in Ningxia population.

Key words: LTA gene, ankylosing spondylitis, association, identification

陈静，周林，霍正浩，张毓洪，杨芝红，杨宝珍，黄慈波，朱小泉，杨泽. 与宁夏人群强直性脊柱炎关联的新基因淋巴毒素-α (LTA)的识别[J]. 遗传, 2011, 33(4): 329-336.

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与宁夏人群强直性脊柱炎关联的新基因淋巴毒素-α (LTA)的识别

Identification of a novel lymphotoxin-alpha (LTA) gene associ-ated with ankylosing spondylitis in Ningxia population

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