Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population.
Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population.
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DOI：
10.4103/0019-5413.97261
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发表时间：
2012-07
影响因子：
1
通讯作者：
Shah MN
中科院分区：
文献类型：
--
作者：
Rathod TN;Chandanwale AS;Gujrathi S;Patil V;Chavan SA;Shah MN
症状性椎间盘退变最近在年轻人群中被报道，质疑其退变病因的基础。最新的证据表明，基因起着重要的作用。胶原蛋白IX，椎间盘的重要组成部分，被发现在遗传易感个体中发生改变。在芬兰人和其他人群中，编码胶原IX的COL9A2和COL9A3基因发生了突变。本研究的目的是测试这些基因在印度人群中的重要性。选择100例脊柱不同部位的椎间盘疾病（IDD）病例进行研究，并进行匹配对照。从血样中分离DNA后，采用实时聚合酶链反应（PCR）检测上述等位基因。每个血液样本COL9A2和COL9A3基因分别被分为纯合子、杂合子和野生（正常）型等位基因三种类型之一。COL9A2等位基因变异的纯合性与100%的发病率相关。研究组COL9A2杂合子等位基因（42%）明显高于对照组（17%）。相比之下，COL9A3基因的等位基因变异与椎间盘疾病无显著相关性。没有单个COL9A3等位基因纯合变异的患者，表明COL9A2变异在印度人群中占优势。这种候选基因策略方法大大增加了我们对与椎间盘疾病有关的印度人口基因组成的了解。本研究强调了COL9A2基因变异，特别是纯合子基因变异在印度人群中引起椎间盘疾病的重要性。
Symptomatic intervertebral disc degeneration is being recently reported in younger population, questions the basis of its degenerative etiology. Latest evidences show that genetics play a significant role. Collagen IX, an important constituent of disc, is found to be altered in genetically predisposed individuals. Mutations have been reported in COL9A2 and COL9A3 genes, which encode Collagen IX, in Finnish and various other populations. The purpose of the present study is to test the significance of these genes in the Indian population. One hundred proven cases of intervertebral disc disease (IDD) of various regions of spine were selected for the study, along with matched controls. They were tested for the above mentioned alleles by allelic discrimination method with real-time polymerase chain reaction (PCR) study after isolation of DNA from blood sample. Each blood sample was classified into one of the three types – homozygous, heterozygous, and wild (normal) type allele – separately for COL9A2 and COL9A3 genes. Homozygosity for COL9A2 allelic variation was associated with 100% occurrence of the disease. Heterozygous allele of COL9A2 was significantly higher in the study group (42%) as compared to the control group (17%). In contrast, allelic variation in COL9A3 gene was found to have no significant correlation with disc disease. There was no single patient with homozygous allelic variation for COL9A3, suggesting predominance of COL9A2 variation in the Indian population. This candidate gene strategy approach adds considerably to our knowledge of genetic makeup of Indian populations in relation with disc disease. This study highlights importance of COL9A2 gene variation especially of homozygous variety in contrast to COL9A3 variation in causing disc disease in Indian population.
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影响因子：
7.4
作者：
Solovieva, S;Leino-Arjas, P;Riihimäki, H
通讯作者：
Riihimäki, H
DOI：
10.1097/00003086-197210000-00025
发表时间：
1972-01-01
影响因子：
4.2
作者：
Nelson, C L;Janecki, C J;Sava, G
通讯作者：
Sava, G
影响因子：
120.7
作者：
Paassilta, P;Lohiniva, J;Ala-Kokko, L
通讯作者：
Ala-Kokko, L
DOI：
10.2106/00004623-200211000-00018
发表时间：
2002-11-01
影响因子：
5.3
作者：
Kawaguchi, Y;Kanamori, M;Kimura, T
通讯作者：
Kimura, T
影响因子：
5.4
作者：
Solovieva, S;Kouhia, S;Riihimäki, H
通讯作者：
Riihimäki, H