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携带ε4等位基因的阿尔茨海默病患者中及附近基因多态性的关联分析。

Association analysis of polymorphisms in and near in Alzheimer's disease patients carrying the ε4 Allele.

作者信息

Yin Jiajun, Feng Wei, Yuan Hongwei, Yuan Jianmin, Wu Yue, Liu Xiaowei, Jin Chunhui, Cheng Zaohuo

机构信息

Brain Science Basic Laboratory, The Affiliated Wuxi Mental Health Center with Nanjing Medical University, Wuxi, Jiangsu Province, China.

Department of Social Prevention and Control, The Affiliated Wuxi Mental Health Center with Nanjing Medical University, Wuxi, Jiangsu Province, China.

出版信息

Neuropsychiatr Dis Treat. 2019 Jan 11;15:213-218. doi: 10.2147/NDT.S186705. eCollection 2019.

Abstract

BACKGROUND AND PURPOSE

Lipid metabolism plays an important role in Alzheimer's disease (AD), and recent evidence suggests that single nucleotide polymorphisms (SNPs) in the StAR-related lipid transfer domain 6 () and near the enzyme enoyl CoA hydratase domain containing 3 () gene are related to plasma lipid levels or lipid traits in AD.

MATERIALS AND METHODS

To identify whether the variants in or near the and genes contribute to AD susceptibility, we carried out an association analysis of rs10164112 and rs7920721 in combination with the apolipoprotein E () ε4 allele in a case-control study (278 cases, 509 controls) in China.

RESULTS

We identified that SNP rs10164112 in the gene was a risk factor associated with AD and the ε4 carriers (all <0.05) after Bonferroni correction. However, multivariate logistic regression analysis indicated that only the minor T allele of rs10164112 combined with the ε4 allele increased the risk of AD under the additive and dominant models (additive model: =0.0078, OR=1.988, 95 % CI: 1.198-3.298; dominant model: =0.0172, OR=2.169, 95% CI: 1.147-4.102).

CONCLUSION

These results suggest that the rs10164112-T allele is not an independent risk factor for AD patients. However, in combination with the ε4 allele, the rs10164112-T allele has been found to be a risk factor for AD in the Han Chinese population reported in this study.

摘要

背景与目的

脂质代谢在阿尔茨海默病(AD)中起重要作用,最近有证据表明,类固醇生成急性调节蛋白相关脂质转运结构域6(StARD6)和含3的烯酰辅酶A水合酶结构域附近的单核苷酸多态性(SNP)与AD患者的血浆脂质水平或脂质特征相关。

材料与方法

为了确定StARD6和ECHDC3基因内或其附近的变异是否会增加AD易感性,我们在中国的一项病例对照研究(278例患者,509例对照)中,对StARD6基因的rs10164112和ECHDC3基因的rs7920721与载脂蛋白E(APOE)ε4等位基因进行了联合关联分析。

结果

我们发现,经Bonferroni校正后,StARD6基因中的SNP rs10164112是与AD及APOE ε4携带者相关的危险因素(所有P<0.05)。然而,多因素logistic回归分析表明,仅StARD6基因rs10164112的次要T等位基因与APOE ε4等位基因联合时,在相加和显性模型下会增加AD风险(相加模型:P=0.0078,OR=1.988,95%CI:1.1983.298;显性模型:P=0.0172,OR=2.169,95%CI:1.1474.102)。

结论

这些结果表明,rs10164112-T等位基因并非AD患者的独立危险因素。然而,在本研究报道的汉族人群中,rs10164112-T等位基因与APOE ε4等位基因联合时,是AD的危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/455e/6333153/7adea11c017e/ndt-15-213Fig1.jpg

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