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载脂蛋白 E 多态性与伊朗多发性硬化症患者的关系。

Apolipoprotein E polymorphisms status in Iranian patients with multiple sclerosis.

机构信息

Reference Health Laboratory, Ministry of Health and Medical Education, Tehran, Iran.

出版信息

J Neurol Sci. 2012 Sep 15;320(1-2):22-5. doi: 10.1016/j.jns.2012.05.050. Epub 2012 Jun 12.

Abstract

BACKGROUND

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system. Evidences linking apolipoprotein E (APOE) to myelin repair, neuronal plasticity, and cerebral inflammatory processes suggest that it may be relevant in MS. The main goal of this study was to determine whether the APOE genotypes and alleles are associated with MS patients.

MATERIALS AND METHODS

In total, 147 MS cases and 168 control subjects from Iranian population were genotyped for APOE gene using PCR-RFLP method.

RESULTS

The frequency of APOE-ε2ε3 genotype was significantly higher in controls than cases (14.3% vs. 6.1%, P=0.009, OR=0.39) whereas APOE-ε3ε4 genotype frequency was significantly higher in cases compared with controls (8.2% vs. 3.6%, P=0.03, OR=2.4). APOE-ε2 allele frequency in cases was significantly lower than that of controls (4.4% vs. 8.0%, P=0.03, OR=0.52). Also male controls were significantly more likely to have APOE-ε2 allele (7.8% vs. 1%, P=0.01, OR=0.11). APOE-ε4 allele frequency in cases was significantly higher than control group (4.8% versus 2.1%, P=0.03, OR=2.35).

CONCLUSION

It seems that individuals carrying APOE-ε4 allele and/or APOE-ε3ε4 genotype develop MS two times more than non-carriers. Also APOE-ε2ε3 genotype or APOE-ε2 allele may have a protective role against MS development in Iranian population. Further investigation would be warranted to understand the role of APOE alleles and genotypes and risk of MS.

摘要

背景

多发性硬化症(MS)是一种中枢神经系统的慢性炎症性脱髓鞘疾病。有证据表明载脂蛋白 E(APOE)与髓鞘修复、神经元可塑性和大脑炎症过程有关,这表明它可能与 MS 有关。本研究的主要目的是确定 APOE 基因型和等位基因是否与 MS 患者有关。

材料和方法

共对来自伊朗人群的 147 例 MS 病例和 168 例对照进行了 APOE 基因的 PCR-RFLP 基因分型。

结果

APOE-ε2ε3 基因型在对照组中的频率明显高于病例组(14.3%比 6.1%,P=0.009,OR=0.39),而 APOE-ε3ε4 基因型在病例组中的频率明显高于对照组(8.2%比 3.6%,P=0.03,OR=2.4)。病例组的 APOE-ε2 等位基因频率明显低于对照组(4.4%比 8.0%,P=0.03,OR=0.52)。此外,男性对照组更有可能携带 APOE-ε2 等位基因(7.8%比 1%,P=0.01,OR=0.11)。病例组的 APOE-ε4 等位基因频率明显高于对照组(4.8%比 2.1%,P=0.03,OR=2.35)。

结论

携带 APOE-ε4 等位基因和/或 APOE-ε3ε4 基因型的个体患 MS 的风险比非携带者高两倍。此外,APOE-ε2ε3 基因型或 APOE-ε2 等位基因可能对伊朗人群 MS 的发生具有保护作用。需要进一步的研究来了解 APOE 等位基因和基因型与 MS 风险的关系。

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