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

Association between the exon 19 polymorphism of the COL9A2 gene and intervertebral disc disease in a Chinese population

中文关键词:  腰椎间盘退变  基因多态性  COL9A2

英文关键词:Intervertebral disc disease  Collagen IX  polymorphism

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。

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.