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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

人类血液细胞特征变异的等位基因格局与常见复杂疾病的联系

William J Astle¹, Heather Elding², Tao Jiang³

¹Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Long Road, Cambridge CB2 0PT, UK; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Forvie Site, Robinson Way, Cambridge CB2 0SR, UK; MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, Cambridge CB1 8RN, UK.

|November 19, 2016

概括

这项研究使用大规模基因组分析确定了影响血液细胞特征的罕见遗传变异. 它揭示了血液细胞特性与自身免疫性疾病和心脏病之间的共同遗传路径.

科学领域:

遗传学
血液学
复杂的特征分析

背景情况:

常见的遗传变异与血液学特征有关,但确切地指出病因基因和途径仍然困难.
了解血细胞表型的遗传结构对于疾病研究至关重要.

研究的目的:

识别与血液细胞特性相关的新基因变异.
研究复杂特征的等位结构.
探索血液细胞指数和复杂疾病之间的共同遗传路径.

主要方法:

在英国生物库和INTERVAL研究数据上进行了全基因组关联分析 (GWAS).
在173,480名参与者中测试了2950万种基因变异与36种血细胞特征的关联.
孟德尔的随机化被用来推断因果关系.

主要成果:

发现了数百种影响血液细胞表型的低频率和罕见变异.
这项研究描述了不同调节基因组域的血液特征的遗传成分.
发现血液细胞指数与自身免疫性疾病,精神分裂症和冠状动脉疾病之间存在共同的遗传途径.

结论:

罕见的遗传变异在确定血细胞表型方面发挥着重要作用.
血细胞特征与各种复杂疾病,包括自身免疫和心血管疾病之间存在遗传联系.
之前观察到的一些血细胞特征与心血管疾病之间的关联可能不是因果关系.

关键词:

孟德尔随机化自体免疫性疾病没有血.心血管疾病复杂的疾病表观遗传学遗传学血液学血液形成

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