| 摘要: |
| 目的 寻找汉族人群中后纵韧带骨化(OPLL)患者4个候选基因的多态性位点,对与疾病相关的位点进行研究.方法 应用Sequnom系统对180例汉族人群4个候选基因(COL6A1、BMP-2、VDR 和Runx2)共19个SNP进行分析,病例组78例,对照组102例,对比两组中每个SNP的基因型分布频率与等位基因分布频率,分析研究与OPLL发病相关的多态性位点及其相互关系.结果 在筛选的4个候选基因共19个SNP位点中,等位基因分析未发现与疾病相关的位点.基因分型差异位点发现Runx2基因的2个位点(rs1321075与rs12333172)在疾病组与对照组差异有统计学意义(P=0.033 9,P=0.042 8),且两个位点均位于6号染色体上,连锁不平衡分析(LD分析)发现位点与疾病之间存在连锁不平衡;6号染色体上的11个SNP位点形成了2个分别长达51 kb和21 kb的单倍体域,其中由rs967588、rs16873379、rs3749863、rs6908650形成的单倍体域CTCG在病例组与对照组发生比值为1.75,风险比0.81,表明有可能增加疾病发生比率(P=0.259).COL6A1、BMP-2、VDR基因未发现与疾病显著相关的多态性位点.结论 本研究首次报道汉族人群中OPLL患者Runx2基因中SNP的变化可能导致OPLL,而COL6A1、BMP-2、VDR基因中的多态性位点未显现出与疾病显著相关. |
| 关键词: 单核苷酸多态性 后纵韧带骨化 Runx2 |
| DOI：10.3724/SP.J.1008.2015.00006 |
| 投稿时间：2014-06-12修订日期：2014-10-24 |
| 基金项目:国家自然科学基金(81371916). |
|
| Single nucleotide polymorphism analysis on ossification of posterior longitudinal ligament in Han population in China |
| LIU Yang,SHI Chang-gui,SHI Guo-dong,WANG Ce,CHEN Yuan-yuan,CAO Peng,CHEN De-yu,YUAN Wen* |
(Department of Orthopaedics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China
*Corresponding author) |
| Abstract: |
| Objective To investigate the polymorphic loci of four candidate genes of ossification of posterior longitudinal ligament (OPLL) patients in the Han population in China, so as to study the loci associated with diseases. Methods The Sequenom system was adopted to analyze the 19 SNP of the four candidate genes (namely, COL6A1, BMP-2, VDR and Runx2) in 180 Han individuals, with 78 in the pathological group and 102 in the control group. The genotype distributions and allele frequencies of each SNP were compared between the two groups, and the polymorphic loci related to OPLL and their relationship were analyzed. Results Allelic analysis found no disease related locus in the 19 SNP loci of the four candidate genes. However, the genotyping analysis found that rs1321075 and rs12333172 of Runx2 were significantly different between the two groups (P=0.0339, P=0.0428), both loci were on the No.6 chromosome and Linkage Disequilibrium (LD) analysis showed linkage disequilibrium between them. The 11 SNP loci on the No.6 chromosome formed two blocks, with the range being 51 kb and 21 kb, respectively. One of the two blocks was a haploid (CTCG) made up of rs967588, rs16873379, rs3749863 and rs6908650, with a patient/control ratio of 1.75 and a risk rate of 0.81, indicating the possibility of increased incidence rate, but with no significant difference (P=0.259). No polymorphic loci were found associated with diseases for COL6A1, BMP-2 and VDR genes. Conclusion This is the first report that SNP variation of Runx2 gene may be a reason for OPLL in the Han population in China, and there was no notable connection between the polymorphic loci of COLA1, BMP-2 and VDR and OPLL. |
| Key words: single nucleotide polymorphism ossification of posterior longitudinal ligament Runx2 |
