解剖学报

›› 2012, Vol. 43 ›› Issue (5): 712-716.doi: 10.3969/j.issn.0529-1356.2012.05.023

• 人类学 • 上一篇    下一篇

中国汉族和维吾尔族MRC1基因多态性与肺结核病的相关性

尉理梁1; 孟春萍1; 李翔2; 朱敏3; 张万江4; 李凫坚3; 杨秀云5; 李敏静6; 钟建平1; 孙小军1*   

  1. 1.绍兴市第六人民医院呼吸科，浙江 绍兴 312000; 2.浙江省人民医院胃肠病重点实验室，杭州 310012; 3.浙江省肺结核病诊断和治疗中心，杭州 310003; 4.石河子医学院病理生理学教研室，新疆 石河子 832003; 5.浙江省立同德医院呼吸科，杭州 310012; 6.浙江省新华医院呼吸科，杭州 310005
  • 收稿日期:2011-12-14 修回日期:2012-05-24 出版日期:2012-10-06
  • 通讯作者: 孙小军

Association study on MRC1 gene polymorphism with pulmonary tuberculosis in Chinese Han and Uygur populations

  1. 1.Department of Pneumology, the Sixth Hospital of Shaoxing, Zhejiang Shaoxing 312000, China; 2.Key Laboratory of Gastroenteropathy, Zhejiang Province People’s Hospital, Hangzhou 310012, China; 3.Zhejiang Center of Diagnosing and Treating of Pulmonary Tuberculosis, Hangzhou 310003, China; 4.Department of Pathophysiology, Shihezi University School of Medicine, Xinjiang Shihezi 832003, China; 5.Department of Pneumology, Zhejiang Province Tongde Hospital, Hangzhou 310012, China; 6.Department of Pneumology, Zhejiang Province Xinhua Hospital, Hangzhou 310005, China
  • Received:2011-12-14 Revised:2012-05-24 Online:2012-10-06
  • Contact: SUN Xiao-jun

摘要： 目

关键词: 甘露糖受体, MRC1 基因, 肺结核, 单核甘酸多态性, 聚合酶链反应, 人

Abstract: Objective The present study is aimed to investigate potential association of SNPs in exon 7 of the MRC1 gene with pulmonary tuberculosis (TB) in Chinese Han and Kazak populations. Methods Six SNPs (G1186A, G1195A, T1212C, C1221G, C1303T and C1323T) of the MRC1 gene were genotyped using the PCR and DNA sequencing methods in 454 Chinese Han and 595 Uygur subjects. Linkage disequilibrium analysis was performed to determine any linkage between the polymorphic sites. Results In a Chinese Han population, we found that the allele frequency of G1186A had a significant difference in frequency distribution between the two groups ( P =0.037; OR=0.76; 95% CI, 0.58-0.98). The AG genotypes were significantly correlated with pulmonary TB ( EM>P /EM><0.01; OR=0.57; 95% CI, 0.37-0.87). After adjustment for age and gender, G1186A site was found to be dominant ( EM>P /EM><0.01; OR=0.59; 95% CI, 0.40-0.87), over-dominant ( EM>P/EM> =0.045; OR=0.69; 95% CI, 0.47-0.99) and additive models (EM> P/EM> =0.041; OR=0.76; 95% CI, 0.59-0.99) in association with pulmonary TB. In the Chinese Uygur population, we found that the allele frequency of G1186A was a significant difference between the two groups ( EM>P/EM> =0.031; OR=1.29; 95% CI=1.02-1.62). The AA genotype was significantly correlated with pulmonary TB ( EM>P /EM>=0.033; OR=1.64; 95% CI=1.04-2.60). After adjustment for age and gender, G1186A site was found to be additive models ( EM>P/EM> =0.033; OR=1.28; 95% CI=1.02-1.61) in association with pulmonary TB. By calculating the pairwise LD between 6 SNPs in the Chinese Uygur population, we found that the frequency of the haplotype GGTCCT ( EM>P /EM>=0.032; OR=0.75; 95% CI=0.57-0.97) and GGTCCC (EM> P/EM> =0.044; OR=0.57; 95% CI=0.33-0.99) was significantly associated with pulmonary TB. No association was found between the other 5 SNPs and TB ( EM>P /EM>>0.05) in the Chinese population. Conclusion This study reports that genetic variants in the MRC1 gene may be associated with pulmonary TB in a Chinese population.

Key words: Mannose receptor, MRC1 gene, Pulmonary tuberculosis, Single-nucleotide polymorphism, PCR, Human

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