Department of Orthopaedics, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China.
Chin Med J (Engl). 2010 Sep;123(17):2341-6.
Ossification of the posterior longitudinal ligament (OPLL) is characterized by the replacement of ligamentous tissue with new ectopic bone formation, and has a strong genetic background. Because of the abnormal bone metabolic features and the strong genetic component, osteoporosis is a related disorder with OPLL. Three polymorphisms on chromosome 20p12 were identified associated with the risk of osteoporosis and osteoporotic fracture. The rs996544 (C/T) "TT" and rs965291 (G/A) "AA" genotypes conferred higher risks for vertebral and hip fractures. The osteoporosis haplotype is defined by two polymorphisms, rs1116867 (A) and D35548 (T). However, it remains unknown whether these three polymorphisms predispose to an increased frequency and severity of OPLL in Han Chinese patients.
A total of 420 OPLL patients and 506 age- and sex-matched controls were studied. Three single nucleotide polymorphisms (SNPs), rs996544 (C/T), rs965291 (G/A) and rs1116867 (A/G), were analyzed by direct sequencing. Associations between these SNPs with the occurrence and extent of OPLL were statistically evaluated.
There was no significant association between the rs996544 (C/T) polymorphism and the prevalence of OPLL. The rs1116867 (A/G) polymorphism "AG" genotype was associated with the occurrence of OPLL. The rs1116867 (A/G) polymorphism "G" allele was associated with the occurrence of OPLL, but not with the extent of OPLL. The rs965291 (G/A) polymorphism in female patients was statistically different between cases and controls (P < 0.05). The rs965291 (G/A) polymorphism "A" allele was associated with the occurrence of OPLL in female patients. For the rs965291 (G/A) polymorphism, patients with the "A" allele (genotype, "AG" or "AA") showed a significantly greater number of ossified cervical vertebrae than those without the "A" allele (genotype, "GG", P < 0.05), particularly in female patients.
The rs1116867 (A/G) and rs965291 (G/A) polymorphisms on chromosome 20p12 are associated with the occurrence and the extent of OPLL, at least in Han Chinese subjects. Our data should advance our understanding of the molecular etiology of OPLL and may guide approaches to prevent the onset of OPLL.
后纵韧带骨化症（ossification of the posterior longitudinal ligament，OPLL）的特征是韧带组织被新的异位骨形成所取代，且具有强烈的遗传背景。由于异常的骨代谢特征和强烈的遗传成分，骨质疏松症是与 OPLL 相关的疾病。在第 20 号染色体 p12 上已经鉴定出三个与骨质疏松症和骨质疏松性骨折风险相关的多态性。rs996544（C/T）“TT”和 rs965291（G/A）“AA”基因型增加了椎体和髋部骨折的风险。骨质疏松症单体型由两个多态性 rs1116867（A）和 D35548（T）定义。然而，这些三个多态性是否会导致汉族患者 OPLL 的发生频率和严重程度增加仍不清楚。
共研究了 420 例 OPLL 患者和 506 名年龄和性别匹配的对照者。通过直接测序分析了三个单核苷酸多态性（single nucleotide polymorphisms，SNP）rs996544（C/T）、rs965291（G/A）和 rs1116867（A/G）。统计学评估了这些 SNP 与 OPLL 的发生和程度之间的关联。
rs996544（C/T）多态性与 OPLL 的患病率之间无显著相关性。rs1116867（A/G）多态性“AG”基因型与 OPLL 的发生相关。rs1116867（A/G）多态性“G”等位基因与 OPLL 的发生有关，但与 OPLL 的程度无关。女性患者中 rs965291（G/A）多态性在病例和对照组之间存在统计学差异（P<0.05）。rs965291（G/A）多态性“A”等位基因与女性患者 OPLL 的发生有关。对于 rs965291（G/A）多态性，携带“A”等位基因（基因型“AG”或“AA”）的患者比不携带“A”等位基因（基因型“GG”）的患者颈椎骨化数量明显更多（P<0.05），尤其是在女性患者中。
第 20 号染色体 p12 上的 rs1116867（A/G）和 rs965291（G/A）多态性与 OPLL 的发生和程度有关，至少在汉族人群中如此。我们的数据应增进对 OPLL 分子病因的理解，并可能指导预防 OPLL 发病的方法。
