Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis
Association between regulating synaptic membrane exocytosis 2 gene polymorphisms and degenerative lumbar scoliosis
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DOI：
10.3892/br.2013.101
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发表时间：
2013-07-01
影响因子：
2.3
通讯作者：
Chung, Joo-Ho
中科院分区：
文献类型：
--
作者：
Kim, Ki-Tack;Lee, Jong Seok;Chung, Joo-Ho
退行性腰椎侧凸（DLS）是一种脊柱畸形，在骨骼成熟后发展，并随着年龄的增长而发展。与青少年特发性脊柱侧凸相反，DLS的遗传关联尚未阐明。本研究旨在探讨调节突触膜胞吐2 （RIMS2， OBOE）基因多态性与DLS的关系。选取RIMS2的两个编码单核苷酸多态性rs2028945 （Gln1200Gln）和rs10461 (Ala1327Ala)，通过直接测序进行基因分型。结果表明，rs10461与DLS在等位基因频率（P=0.008）和基因型分布（共显性模型P=0.006，显性模型P= 0.018，隐性模型P= 0.029）上存在相关性。在单倍型分析中，两种单倍型在对照组和DLS组之间表现出显著差异（CC单倍型，共显性模型P=0.009，显性模型P= 0.038，隐性模型P= 0.030； CT单倍型，共显性模型P=0.041，显性模型P= 0.021）。这些发现提示RIMS2可能与DLS的发生有关。
Degenerative lumbar scoliosis (DLS) is a spinal deformity that develops after skeletal maturity and progresses with age. In contrast to adolescent idiopathic scoliosis, the genetic association of DLS has not yet been elucidated. The purpose of this study was to investigate the association between regulating synaptic membrane exocytosis 2 (RIMS2, OBOE) gene polymorphisms and DLS. Two coding single-nucleotide polymorphisms [rs2028945 (Gln1200Gln) and rs10461 (Ala1327Ala)] of RIMS2 were selected and genotyped by direct sequencing. As a result, the rs10461 was associated with DLS in allele frequencies (P=0.008) and genotype distributions (P=0.006 in the codominant model, 0.018 in the dominant model and 0.029 in the recessive model). In the analysis of haplotypes, two haplotypes exhibited significant differences between the control and DLS groups (CC haplotype, P=0.009 in the codominant model, 0.038in the dominant model and 0.030 in the recessive model; CT haplotype, P=0.041 in the codominant model and 0.021 in the dominant model). These findings suggest that RIMS2 may be associated with the development of DLS.