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中国大陆帕金森病全基因组关联研究中多个位点的分析。

Analysis of several loci from genome-wide association studies in Parkinson's disease in mainland China.

作者信息

Liu Zhen-Hua, Guo Ji-Feng, Li Kai, Wang Ya-Qin, Kang Ji-Feng, Wei Yang, Sun Qi-Ying, Xu Qian, Wang Dan-Ling, Xia Kun, Yan Xin-Xiang, Xu Chang-Shui, Tang Bei-Sha

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, 410008 Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha, 410008 Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.

出版信息

Neurosci Lett. 2015 Feb 5;587:68-71. doi: 10.1016/j.neulet.2014.12.027. Epub 2014 Dec 17.

Abstract

Large-scale meta-analyses of genome-wide association studies in Parkinson's disease (PD) have identified a number of susceptibility loci in sporadic PD. Since the characteristics of those loci in a Han Chinese population from mainland China were unknown, we performed a case-control replication study in this population and evaluated several single nucleotide polymorphisms (SNPs) identified in a recent GWAS-meta-analysis. In total, 933 subjects comprised of 460 PD patients and 473 controls were genotyped. We found strong evidence of an association for rs708723 in RAB7L1 in the total sample (genotype p=0.01, allele p=0.01, OR=0.78, 95% CI=0.65-0.94). With rs156429 in GPNMB, there was a significant difference in genotype and allele distribution between male PD patients and the control subgroup (genotype p=0.01, allele p=0.01, OR=0.67, 95% CI=0.49-0.92). However, we did not observe any significant difference in genotype or allele distribution between PD and control for rs34016896 in NMD3 and rs6812193 in STBD1.

摘要

帕金森病(PD)全基因组关联研究的大规模荟萃分析已经在散发性PD中确定了许多易感基因座。由于中国大陆汉族人群中这些基因座的特征尚不清楚,我们在该人群中进行了病例对照重复研究,并评估了近期全基因组关联研究荟萃分析中确定的几个单核苷酸多态性(SNP)。总共对933名受试者进行了基因分型,其中包括460名PD患者和473名对照。我们发现,在总样本中,RAB7L1基因中的rs708723存在显著关联证据(基因型p = 0.01,等位基因p = 0.01,OR = 0.78,95%CI = 0.65 - 0.94)。对于GPNMB基因中的rs156429,男性PD患者与对照亚组之间的基因型和等位基因分布存在显著差异(基因型p = 0.01,等位基因p = 0.01,OR = 0.67,95%CI = 0.49 - 0.92)。然而,我们没有观察到NMD3基因中的rs34016896和STBD1基因中的rs6812193在PD患者和对照之间的基因型或等位基因分布有任何显著差异。

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