Polymorphism in the hypoxia-inducible factor 1alpha gene may confer susceptibility to LDD in Chinese cohort.

Polymorphism in the hypoxia-inducible factor 1alpha gene may confer susceptibility to LDD in Chinese cohort.
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DOI:
10.1371/journal.pone.0073158
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发表时间:
2013
期刊:
影响因子:
3.7
通讯作者:
Lin JH
Lin JH
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Lin WP;Wang XJ;Wang CR;Zhang LQ;Li N;Wang FS;Lin JH

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本研究旨在探讨低氧诱导因子-1 α(HIF-1α)基因变异是否与腰椎间盘退变(LDD)的易感性及临床特征相关。我们检查了320名LDD患者和447名性别和年龄匹配的对照组。我们还检测了HIF-1α基因变异,包括C1772 T(P582 S)和G1790 A(A588 T)多态性。1790 A > G多态性在LDD患者和对照组中的等位基因和基因型分布差异有统计学意义。Logistic回归分析显示,1790个AA基因型对LDD的发展具有保护作用。HIF-1α 1790 A > G多态性也影响LDD的严重程度,根据改良的日本骨科协会(mJOA)评分进行评估。1790例AA基因型携带者的mJOA评分显著低于AG和GG基因型携带者。C1772 T未显示与LDD的风险和严重程度相关。提示HIF-1α 1790 A > G多态性可作为判断LDD易感性和严重程度的分子标记。
This study aimed to investigate whether or not hypoxia-inducible factor-1α (HIF-1α) gene variants are associated with the susceptibility and clinical characteristics of lumbar disc degeneration (LDD). We examined 320 patients with LDD and 447 gender- and age-matched control subjects. We also determined the HIF-1α gene variants, including C1772T (P582S) and G1790A (A588T) polymorphisms. Significant differences were observed in allelic and genotypic distributions of 1790 A > G polymorphisms between LDD cases and control subjects. Logistic regression revealed that 1790 AA genotypes indicated a protective effect against the development of LDD. The HIF-1α 1790 A > G polymorphisms also affected the severity of LDD as evaluated based on the modified Japanese Orthopedic Association (mJOA) scores. The 1790 AA genotype carriers exhibited significantly lower mJOA scores than AG and GG carriers. C1772T did not show any association with the risk and severity of LDD. Our study suggested that HIF-1α 1790 A > G polymorphisms may be used as a molecular marker to determine the susceptibility and severity of LDD.
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