Kim K H, Kuh S U, Park J Y, Lee S J, Park H S, Chin D K, Kim K S, Cho Y E
Department of Neurosurgery, Spine and Spinal Cord Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Department of Neurosurgery, Spine and Spinal Cord Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
Genet Mol Res. 2014 Mar 31;13(1):2240-7. doi: 10.4238/2014.March.31.4.
COL6A1 and BMP-2 genes have been implicated in ossification of the posterior longitudinal ligament (OPLL) susceptibility in Japanese and Chinese Han populations. However, no study has yet investigated the DNA of unaffected family members of patients with OPLL. This study investigated differences in genetic polymorphisms of BMP-2 and COL6A1 between Korean patients with OPLL and their family members (with and without OPLL). A total of 321 subjects (110 patients with OPLL and 211 family members) were enrolled in the study. Associations between two single nucleotide polymorphisms (SNPs) of the BMP-2 gene (Ser37Ala and Ser87Ser) and two SNPs of COL6A1 [promoter (-572) and intron 33 (+20)] with susceptibility to OPLL of the cervical spine were investigated between the two groups (OPLL+ and OPLL-). Of the 321 subjects, 162 had cervical OPLL (50.4%; 110 patients, 52 family members). There was a familial tendency of OPLL in 34 of the 110 families (30.9%). Allele and haplotype frequencies of the four SNPs in the BMP-2 and COL6A1 genes did not differ significantly between the OPLL+ and OPLL- groups, even when excluding participants over 50 years of age. This is the first report identifying SNPs of COL6A1 and BMP-2 in Korean patients and family members with OPLL. Although allele and haplotype frequencies were similar with those of a previous study in Japanese and Chinese patients, unaffected family members also showed similar rates of these SNPs in the present study. These results suggest that these SNPs may not directly influence the expression of OPLL.
在日本和中国汉族人群中，COL6A1基因和BMP - 2基因与后纵韧带骨化症（OPLL）易感性有关。然而，尚无研究对OPLL患者未受影响的家庭成员的DNA进行调查。本研究调查了韩国OPLL患者及其家庭成员（有或无OPLL）之间BMP - 2和COL6A1基因多态性的差异。共有321名受试者（110例OPLL患者和211名家庭成员）参与了本研究。研究了两组（OPLL +组和OPLL -组）中BMP - 2基因的两个单核苷酸多态性（SNP）（Ser37Ala和Ser87Ser）以及COL6A1基因的两个SNP [启动子（-572）和内含子33（+20）]与颈椎OPLL易感性之间的关联。在321名受试者中，162人患有颈椎OPLL（50.4%；110例患者，52名家庭成员）。110个家庭中有34个（30.9%）存在OPLL家族倾向。即使排除50岁以上的参与者，BMP - 2和COL6A1基因中四个SNP的等位基因和单倍型频率在OPLL +组和OPLL -组之间也没有显著差异。这是首篇鉴定韩国OPLL患者及其家庭成员中COL6A1和BMP - 2基因SNP的报告。尽管等位基因和单倍型频率与之前在日本和中国患者中的研究结果相似，但在本研究中未受影响的家庭成员也显示出这些SNP的相似比例。这些结果表明，这些SNP可能不会直接影响OPLL的表达。
