中国组织工程研究 ›› 2016, Vol. 20 ›› Issue (29): 4290-4296.doi: 10.3969/j.issn.2095-4344.2016.29.005

• 骨组织构建 bone tissue construction • 上一篇    下一篇

白细胞介素12基因多态性与广西壮族人群骨关节结核易感性的关系

陆  潞1,韦贵将2,谢克恭1,王俊利2,林佳杰1,乔宁宁1,唐毓金1   

  1. 1右江民族医学院附属医院,1脊柱外科,2检验科,广西壮族自治区百色市  533000
  • 出版日期:2016-07-08 发布日期:2016-07-08
  • 通讯作者: 唐毓金,主任医师,教授,硕士生导师,右江民族医学院附属医院脊柱外科,广西壮族自治区百色市 533000
  • 作者简介:陆潞,男,1981年生,广西壮族自治区平果县人,壮族,主治医师,2015年桂林医学院毕业,硕士,主要从事关节疾病及脊柱骨病研究。
  • 基金资助:

    2015国家自然科学基金(81541136);广西壮族自治区卫生厅自筹经费科研课题(Z2012712);百色市科学研究与技术开发项目(20160610,20140931)

Association between single-nucleotide polymorphisms in interleukin-12 and susceptibility to osteoarticular tuberculosis in Guangxi Zhuang population

Lu Lu1, Wei Gui-jiang2, Xie Ke-gong1, Wang Jun-li2, Lin Jia-jie1, Qiao Ning-ning1, Tang Yu-jin1   

  1. 1Department of Spine Surgery, 2Laboratory Department, First Affiliated Hospital, Youjiang Medical University for Nationalities, Baise 533000, Guangxi Zhuang Autonomous Region, China
  • Online:2016-07-08 Published:2016-07-08
  • Contact: Tang Yu-jin, Professor, Chief physician, Master’s supervisor, Department of Spine Surgery, First Affiliated Hospital, Youjiang Medical University for Nationalities, Baise 533000, Guangxi Zhuang Autonomous Region, China
  • About author:Lu Lu, Master, Attending physician, Department of Spine Surgery, First Affiliated Hospital, Youjiang Medical University for Nationalities, Baise 533000, Guangxi Zhuang Autonomous Region, China
  • Supported by:

    the National Natural Science Foundation of China, No. 81541136; a grant from Health and Family Planning Commission of Guangxi Zhuang Autonomous Region, China, No. Z2012712; Scientific Research and Technological Development Program of Baise, China, No. 20160610, 20140931

摘要:

文章快速阅读:

文题释义:
单核苷酸多态性:主要是指在基因组水平上由单个核苷酸的变异所引起的DNA序列多态性。它是人类可遗传的变异中最常见的一种,占所有已知多态性的90%以上。SNP在人类基因组中广泛存在,平均每500-1 000个碱基对中就有1个,估计其总数可达300万个甚至更多。
基因多态性:多态性是指在一个生物群体中,同时和经常存在2种或多种不连续的变异型或基因型(genotype)或等位基因(allele),亦称遗传多态性(genetic polymorphism)或基因多态性。从本质上来讲,多态性的产生在于基因水平上的变异,一般发生在基因序列中不编码蛋白的区域和没有重要调节功能的区域。对于一个体而言,基因多态性碱基顺序终生不变,并按孟德尔规律世代相传。
摘要
背景:
研究提示白细胞介素12可能在骨关节结核发生中发挥免疫调节作用。
目的:分析白细胞介素12A基因rs568408 G/A和白细胞介素12B基因rs3212227 A/C位点单核苷酸多态性与广西壮族人群骨关节结核易感相关性及其与骨关节结核患者血清白细胞介素12水平的关系。
方法:采用单碱基延伸的PCR技术和DNA测序方法对150例骨关节结核患者(病例组)及165例健康体检者(对照组)rs568408和rs3212227 位点进行多态性检测,分析各基因型以及等位基因的分布频率,各基因型与骨关节结核易感性的关系。结合已检测的血清白细胞介素12水平,分析2位点基因型与骨关节结核患者血清白细胞介素12水平的关系。
结果与结论:白细胞介素12A基因rs568408 G/A位点和白细胞介素12B基因rs3212227 A/C位点在对照组与骨关节结核组中的基因型及等位基因频率分布差异无显著性意义(P > 0.05)。2个位点的4种单倍型在对照组和骨关节结核组中的分布差异亦无显著性意义(P > 0.05)。病例组rs568408位点野生型GG和GA+AA突变型间血清白细胞介素12水平比较差异无显著性意义(P > 0.05),rs3212227位点野生型AA和AC+CC突变型间血清白细胞介素12水平比较差异无显著性意义(P > 0.05)。说明白细胞介素12A基因 rs568408 G/A和白细胞介素12B基因 rs3212227 A/C位点多态性可能与广西壮族人群骨关节结核易感性无关。

中国组织工程研究杂志出版内容重点:组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松组织工程
ORCID: 0000-0002-1736-6434(陆潞)

关键词: 组织构建, 骨组织工程, 骨关节结核, 白细胞介素12, 基因多态性, 易感性, 国家自然科学基金

Abstract:

BACKGROUND: Interleukin-12 (IL-12) may function as an immune regulator in the pathogenesis of osteoarticular tuberculosis.
OBJECTIVE: To explore the association of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with susceptibility to osteoarticular tuberculosis and serum interleukin-12 levels in Guangxi Zhuang population.
METHODS: The single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms were detected by polymerase chain reaction-single base extension technique and direct DNA sequencing in 150 patients with osteoarticular tuberculosis (disease group) and 165 healthy individuals (control group) in Guangxi Zhuang population. The genotype and allele frequencies of IL-12 and the relationship of genotypes to the susceptibility to osteoarticular tuberculosis were analyzed. In addition, the association of genotypes of single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C with serum IL-12 levels were analyzed.
RESULTS AND CONCLUSION: There was no significant difference in the genotype and allele frequencies of IL-12A rs568408 G/A and IL-12B rs3212227 A/C between the disease group and the control group (P > 0.05). Moreover, there was no difference in four haplotypes of IL-12 gene between the disease group and the control group (P > 0.05). Serum IL-12 levels in subjects with osteoarticular tuberculosis carrying the variant rs568408 GA/AA genotypes and wild-type rs568408 GG genotypes were similar (P > 0.05). Similarly, there was no significant difference in serum IL-12 levels between subjects with osteoarticular tuberculosis carrying the variant rs3212227 AC/CC genotypes and wild-type rs3212227 AA genotypes (P > 0.05). These findings suggest that the single-nucleotide polymorphisms in IL-12A rs568408 G/A and IL-12B rs3212227 A/C polymorphisms are not associated with susceptibility to osteoarticular tuberculosis in Guangxi Zhuang population.

中国组织工程研究杂志出版内容重点:组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松组织工程

Key words: Tuberculosis, Osteoarticular, Interleukin-12, Genes, Polymorphism, Single Nucleotide, Tissue Engineering

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