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2型糖尿病全基因组关联研究位点与帕金森病和阿尔茨海默病风险的关联

Association of type 2 diabetes GWAS loci and the risk of Parkinson's and Alzheimer's diseases.

作者信息

Chung Sun Ju, Kim Mi-Jung, Kim Juyeon, Ryu Ho-Sung, Kim Young Jin, Kim Seong Yoon, Lee Jae-Hong

机构信息

Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.

Department of Neurology, Bobath Memorial Hospital, Seongnam, Republic of Korea.

出版信息

Parkinsonism Relat Disord. 2015 Dec;21(12):1435-40. doi: 10.1016/j.parkreldis.2015.10.010. Epub 2015 Oct 20.

Abstract

BACKGROUND

Insulin and insulin-like growth factor contribute to normal brain function. Recent experimental and clinical studies showed that type 2 diabetes mellitus (T2DM) and Parkinson's disease (PD) or Alzheimer's disease (AD) share several dysregulated pathways.

OBJECTIVE

We aimed to investigate whether genome-wide significant loci of T2DM are associated with the risk of PD and AD as well as the severity of cognitive impairment.

METHODS

Study subjects were 500 PD patients, 400 AD patients, and 500 unrelated controls. We selected 32 genetic variants from 11 genes (CDC123, CDKAL1, CDKN2B, FTO, GLIS3, HHEX, IGF2BP2, KCNJ11, KCNQ1, SLC30A8, and TCF7L2) and intergenic regions based on results of recent genome-wide association studies (GWAS) in T2DM. These variants were reported to be T2DM-susceptibility loci and have been replicated in other independent studies. All association analyses were performed using logistic regression models, adjusting for age and sex.

RESULTS

KCNQ1 SNP rs163182 showed the strongest association with AD, but it was not significant after Bonferroni correction (OR = 1.30, 95% CI = 1.07-1.59, Pcorrected = 0.32). In PD patients, CDC123 SNP rs11257655 showed modest association with MMSE score <26, and CDKN2B SNPs (rs2383208, rs10965250, and rs10811661) showed modest association with MoCA score <26, which were not significant after Bonferroni correction. Other genetic variants had no association with the risk of PD or AD and the severity of cognitive impairment.

CONCLUSIONS

Our results suggest that genome-wide significant loci of T2DM play no major role in the risk and cognitive impairment of PD and AD.

摘要

背景

胰岛素及胰岛素样生长因子有助于正常脑功能。近期实验和临床研究表明,2型糖尿病(T2DM)与帕金森病(PD)或阿尔茨海默病(AD)存在若干失调的通路。

目的

我们旨在研究T2DM全基因组显著位点是否与PD和AD风险以及认知障碍严重程度相关。

方法

研究对象为500例PD患者、400例AD患者和500例无关对照。基于近期T2DM全基因组关联研究(GWAS)结果,我们从11个基因(CDC123、CDKAL1、CDKN2B、FTO、GLIS3、HHEX、IGF2BP2、KCNJ11、KCNQ1、SLC30A8和TCF7L2)及基因间区域中选择了32个遗传变异。这些变异被报道为T2DM易感位点,且已在其他独立研究中得到验证。所有关联分析均使用逻辑回归模型,并对年龄和性别进行了校正。

结果

KCNQ1基因单核苷酸多态性(SNP)rs163182与AD的关联最强,但经Bonferroni校正后无统计学意义(比值比[OR]=1.30,95%置信区间[CI]=1.07 - 1.59,校正P值=0.32)。在PD患者中,CDC123基因SNP rs11257655与简易精神状态检查表(MMSE)评分<26有适度关联,CDKN2B基因SNP(rs2383208、rs10965250和rs10811661)与蒙特利尔认知评估量表(MoCA)评分<26有适度关联,经Bonferroni校正后均无统计学意义。其他遗传变异与PD或AD风险及认知障碍严重程度无关。

结论

我们的结果表明,T2DM全基因组显著位点在PD和AD的风险及认知障碍中不起主要作用。

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