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位于10号染色体上的谷胱甘肽S-转移酶O1(GSTO1)、谷胱甘肽S-转移酶O2(GSTO2)和丝氨酸蛋白酶11(PRSS11)基因中的三个单核苷酸多态性(SNPs)与阿尔茨海默病的发病年龄无关。

Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease.

作者信息

Ozturk Ayla, Desai Purnima P, Minster Ryan L, Dekosky Steven T, Kamboh M Ilyas

机构信息

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA.

出版信息

Neurobiol Aging. 2005 Aug-Sep;26(8):1161-5. doi: 10.1016/j.neurobiolaging.2004.11.001. Epub 2004 Dec 18.

DOI:10.1016/j.neurobiolaging.2004.11.001
PMID:15917099
Abstract

Linkage studies suggest the presence of putative risk and/or age-at-onset genes for Alzheimer's disease on Chromosome 10. Recently, a genomic converging approach using a combination of linkage, expression and association studies has reported significant associations of the glutathione S-transferase omega 1 and 2 (GSTO1 and GSTO2) genes and possibly the protease serine 11 (PRSS11) gene on chromosome 10 with age-at-onset, but not risk, for Alzheimer's disease (AD) and Parkinson disease. We investigated the association of the reported three polymorphisms in 990 sporadic late-onset AD cases (26% autopsy confirmed) and 735 controls. In our sample, we found no association either with age-at-onset in AD cases or with disease risk in the case-control cohort. However, haplotype analysis revealed a modest association of one haplotype with AD risk (p = 0.04). Additional markers in these genes need to be screened to explore their role in the etiology of AD.

摘要

连锁研究表明,10号染色体上存在阿尔茨海默病的假定风险基因和/或发病年龄基因。最近,一种结合连锁、表达和关联研究的基因组收敛方法报告称,10号染色体上的谷胱甘肽S-转移酶ω1和2(GSTO1和GSTO2)基因以及可能的丝氨酸蛋白酶11(PRSS11)基因与阿尔茨海默病(AD)和帕金森病的发病年龄显著相关,但与风险无关。我们调查了990例散发性晚发性AD病例(26%经尸检证实)和735名对照中报告的三种多态性的关联。在我们的样本中,我们未发现与AD病例的发病年龄或病例对照队列中的疾病风险存在关联。然而,单倍型分析显示一种单倍型与AD风险存在适度关联(p = 0.04)。需要筛选这些基因中的其他标记,以探索它们在AD病因学中的作用。

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