吴成爱,王 娜,肖 斌,陶剑锋,赵丹慧,田 伟.COL9A2链19外显子单核苷酸基因多态性与腰椎间盘退变相关性分析[J].中国脊柱脊髓杂志,2013,(7):644-647. |
COL9A2链19外显子单核苷酸基因多态性与腰椎间盘退变相关性分析 |
中文关键词: 腰椎间盘退变 基因多态性 COL9A2 |
中文摘要: |
【摘要】 目的:探讨Ⅸ型胶原蛋白A2(COL9A2)链第19号外显子单核苷酸多态性与腰椎间盘退变的关系。方法:采用病例-对照研究方法,101例中国北方汉族腰椎间盘退变(LDD)与98例中国北方汉族非LDD患者,提取全血基因组DNA,对COL9A2链第19外显子进行扩增并测序,观察其单核苷酸多态性与LDD的相关性。结果:在测序结果中发现,COL9A2链第19外显子中存在Gln326Trp和Gln326Arg多态性,并且在退变组与非退变组中分别为61、5和52、11。Gln326Trp和Gln326Arg多态性在退变组与非退变组相比无统计学差异(P>0.05)。对退变组分析,COL9A2链第19外显子Gln326Trp和Gln326Arg多态性与腰椎间盘退变程度、退变节段位置及退变节段数量无明显相关性(P>0.05)。结论:在中国北方汉族中,COL9A2第19外显子单核苷酸多态性可能不是决定腰椎间盘退变的主要危险因素。 |
Association between the exon 19 polymorphism of the COL9A2 gene and intervertebral disc disease in a Chinese population |
英文关键词:Intervertebral disc disease Collagen IX polymorphism |
英文摘要: |
【Abstract】 Objectives: To investigate the possible association of exon 19 of the COL9A2 polymorphism with the occurrence and degree of lumbar disc degeneration(LDD). Methods: COL9A2 genotypes were determined by polymerase chain reaction(PCR) and direct DNA sequencing in a case-control study involving 101 LDD patients and 98 normal volunteers in Chinese populations. Results: The Gln326Trp and Gln326Arg polymorphism of COL9A2 were observed in Chinese populations, and there were 61, 5 and 52, 11 in patients and control, respectively. There was no association of the Trp326 or Arg326 allele of COL9A2 with LDD in Chinese populations(P>0.05). Also there was no relationship between COL9A2 genotyping(Gln326Trp and Gln326Arg) and the grade of disc degeneration in LDD patients(P>0.05). Conclusions: COL9A2 genotyping (Gln326, Trp326 and Arg326) may not be associated with Lumbar disc disease in Chinese Han population. |
投稿时间:2012-05-14 修订日期:2012-04-16 |
DOI: |
基金项目:国家自然科学基金(项目编号:30973037);北京市科委基金资助(项目编号:D090507046410009);国家科技部十二五支撑计划课题(课题编号:2012BAI10B02) |
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