Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients
Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients
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DOI：
10.4238/2013.february.28.26
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发表时间：
2013-01-01
影响因子：
0.4
通讯作者：
Kim, N-K
中科院分区：
文献类型：
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作者：
Han, I. B.;Ropper, A. E.;Kim, N-K
后纵韧带骨化（OPLL）被认为与骨代谢异常有关，转化生长因子- β 1 （tgf - β 1）已被证明影响骨重塑过程。我们在298名韩国人（98名OPLL患者和200名对照组）中研究了tgf - β 1启动子（- 509t >t; rs1800469）和外显子1 （869T >c; rs1982073）的两个snp。采用PCR和RFLP检测启动子SNP -509C>T，采用TaqMan探针法检测869T>C多态性基因型。将受试者分为连续型（连续型+混合型）和节段型（节段型+局部型）。我们还根据性别差异分别分析了这种关联。OPLL患者与对照组tgf - β 1基因-509C>T和869T>C多态性的基因型分布无显著差异。tgf - β 1 -509C>T和869T>C多态性的联合分析显示与OPLL无显著相关性，亚组分析未显示SNP -509C>T或SNP 869T>C与OPLL亚组之间存在显著相关性。性别分层无显著影响。我们得出结论，启动子区域（-509C>T）和外显子1 （869T>C）多态性与韩国人群的OPLL无关。
Ossification of the posterior longitudinal ligaments (OPLL) has been considered to be associated with abnormalities of bone metabolism, and transforming growth factor-beta 1 (TGF-beta 1) has been demonstrated to affect the bone remodeling process. We investigated two SNPs of the TGF-beta 1 promoter (-509C>T; rs1800469) and exon 1 (869T>C; rs1982073) in 298 Koreans (98 patients with OPLL and 200 control subjects). The promoter SNP -509C>T was determined by PCR and RFLP, and the TaqMan probe assay was used to determine 869T>C polymorphism genotypes. The subjects were divided into OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type). We also separately analyzed this association according to gender difference. There was no significant difference in genotype distributions of -509C>T and 869T>C polymorphisms of the TGF-beta 1 gene between OPLL patients and controls. A combined analysis of TGF-beta 1 -509C>T and 869T>C polymorphisms showed no significant association with OPLL, and a subgroup analysis did not show any significant correlation between the SNP -509C>T or SNP 869T>C and OPLL subgroups. Stratification by gender demonstrated no significant effect. We conclude that promoter region (-509C>T) and exon 1 (869T>C) polymorphisms are not associated with OPLL in the Korean population.